XYY syndrome

XYY syndrome, also known as Jacobs syndrome, is

XYY syndrome
an aneuploid genetic condition in which a male has an
extra Y chromosome.[1] There are usually few Other names 47,XYY[1]
symptoms.[2] These may include being taller than
average, acne, and an increased risk of learning
disabilities.[1][2] The person is generally otherwise
normal, including typical rates of fertility.[1]

The condition is generally not inherited from a person's

parents but rather occurs as a result of a random event
during sperm development.[1] Diagnosis is by a
chromosomal analysis, but most of those affected are
not diagnosed within their lifetime.[2] There are 47
chromosomes, instead of the usual 46, giving a
47,XYY karyotype.[1]

Treatment may include speech therapy or extra help

with schoolwork, but outcomes are generally good.[2]
The condition occurs in about 1 in 1,000 male births.[1]
Many people with the condition are unaware that they
have it.[3] The condition was first described in 1961.[4]
Karyotype from a male with 47,XYY
Specialty Medical genetics
Contents Symptoms Being taller than average,
acne, learning problems[1][2]
Signs and symptoms
Physical traits Complications Autism spectrum disorder,
Cognitive and behavioral traits ADHD[3]

Cause Causes Genetics[2]

Diagnosis Diagnostic Chromosomal analysis[2]

method
Epidemiology
Differential Klinefelter syndrome, Marfan
History
diagnosis syndrome, Sotos syndrome[2]
1960s
1970s Prevention None[3]
1980s and later Treatment Speech therapy, tutoring[2]

Society and culture Prognosis Good[2]

See also Frequency ~1 in 1,000 males[1]

References
External links

Signs and symptoms

Physical traits

People with the 47,XYY karyotype have an increased growth rate from early childhood, with an average
final height approximately 7 cm (3") above expected final height.[5] In Edinburgh, Scotland, eight 47,XYY
boys born 1967–1972 and identified in a newborn screening programme had an average height of
188.1  cm (6'2") at age 18—their fathers' average height was 174.1  cm (5'81 ⁄2 "), their mothers' average
height was 162.8 cm (5'4").[6][7] The increased gene dosage of three X/Y chromosome pseudoautosomal
region (PAR1) SHOX genes has been postulated as a cause of the increased stature seen in all three sex
chromosome trisomies: 47,XXX, 47,XXY, and 47,XYY.[8]
Severe acne was noted in a very few early case
reports, but dermatologists specializing in acne now doubt the existence of a relationship with 47,XYY.[9]

Prenatal testosterone levels are normal in 47,XYY males.[10] Most 47,XYY males have normal sexual
development and have normal fertility.[6][11][12][13]

Cognitive and behavioral traits

In contrast to the other common sex chromosome aneuploidies—47,XXX and 47,XXY (Klinefelter
syndrome)—the average IQ scores of 47,XYY boys identified by newborn screening programs were not
reduced compared to the general population.[14][15] In a summary of six prospective studies of 47,XYY
boys identified by newborn screening programmes, twenty-eight 47,XYY boys had an average 100.76
verbal IQ, 108.79 performance IQ, and 105.00 full-scale IQ.[16] In a systematic review including two
prospective studies of 47,XYY boys identified by newborn screening programs and one retrospective study
of 47,XYY men identified by screening men over 184 cm (6'1 ⁄2 ") in height, forty-two 47,XYY boys and
men had an average 99.5 verbal IQ and 106.4 performance IQ.[15][17][18][19]

In prospective studies of 47,XYY boys identified by newborn screening programs, the IQ scores of
47,XYY boys were usually slightly lower than those of their siblings.[6][20] In Edinburgh, fifteen 47,XYY
boys with siblings identified in a newborn screening program had an average 104.0 verbal IQ and 106.7
performance IQ, while their siblings had an average 112.9 verbal IQ and 114.6 performance IQ.[17]

Approximately half of 47,XYY boys identified by newborn screening programs had learning difficulties—
a higher proportion than found among siblings and above-average-IQ control groups.[6][13] In Edinburgh,
54% of 47,XYY boys (7 of 13) identified in a newborn screening program received remedial reading
teaching compared to 18% (4 of 22) in an above-average-IQ control group of 46,XY boys matched by their
father's social class.[17] In Boston, USA 55% of 47,XYY boys (6 of 11) identified in a newborn screening
program had learning difficulties and received part-time resource room help compared to 11% (1 of 9) in an
above-average-IQ control group of 46,XY boys with familial balanced autosomal chromosome
translocations.[18]

Developmental delays and behavioral problems are also possible, but these characteristics vary widely
among affected boys and men, are not unique to 47,XYY and are managed no differently from in 46,XY
males.[11] Aggression is not seen more frequently in 47,XYY males.[6][11]

Patients with Jacobs syndrome have been shown to have a higher risk of developing certain diseases such
as asthma, seizure problems, and tremors. Some 47,XYY patients have been found to have genitourinary
malformations. These include cryptorchidism, hypoplastic scrotum, microphallus, and hypospadias.[21]
These men could be diagnosed with infertility as a result of oligospermia or sperm chromosomal
abnormalities.[11] According to certain psychological studies, these patients may probably have problems
with impulse control and emotional regulation.[11] Increased testosterone levels were found to be correlated
with an increased risk of aggressive behavior in incarcerated males with 47,XYY syndrome.[21] More
recent studies have found these males to be at a greater risk for criminal behavior, although testosterone
levels have not consistently been proven to be elevated or related to this increased risk.[21] These patients
are also at a higher risk of developing speech difficulties, ADHD, autism spectrum disorder, and learning
disabilities.

Cause
47,XYY is not inherited, but usually occurs as a random event
during the formation of sperm cells. An incident in chromosome
separation during anaphase II (of meiosis II) called nondisjunction
can result in sperm cells with an extra copy of the Y-chromosome.
If one of these atypical sperm cells contributes to the genetic
makeup of a child, the child will have an extra Y-chromosome in
each of the body's cells.[22]

In some cases, the addition of an extra Y-chromosome results from Diagram showing XYY syndrome
nondisjunction during cell division during a post-zygotic mitosis in formation. MI and MII are the stages
early embryonic development. This can produce 46,XY/47,XYY of meiosis, while the blue and pink
circles are male and female cells
mosaics.[22]
respectively, and the blue and pink
bars are Y- and X-chromosomes
Diagnosis respectively. The purple cell has 2 Y-
chromosomes and 1 X-chromosome
47,XYY syndrome is not usually diagnosed until learning issues due to fusing with a male cell with 2
are present. The syndrome is diagnosed in an increasing number of Y-chromosomes, which was due to
children prenatally by amniocentesis and chorionic villus division problems in MII of the male.
sampling[23] in order to obtain a chromosome karyotype, where the
abnormality can be observed.

It is estimated that only 15–20% of children with 47,XYY syndrome are ever diagnosed. Of these,
approximately 30% are diagnosed prenatally. For the rest of those diagnosed after birth, around half are
diagnosed during childhood or adolescence after developmental delays are observed. The rest are
diagnosed after any of a variety of symptoms, including fertility problems (5%)[24] have been seen.

Epidemiology
Around 1 in 1,000 boys are born with a 47,XYY karyotype.[6][11] The incidence of 47,XYY is not known
to be affected by the parents' ages.[6][11]

History

1960s

In April 1956, Hereditas published the discovery by cytogeneticists Joe Hin Tjio and Albert Levan at Lund
University in Sweden that the normal number of chromosomes in diploid human cells was 46—not 48 as
had been believed for the preceding thirty years.[25] In the wake of the establishment of the normal number
of human chromosomes, 47,XYY was the last of the common sex chromosome aneuploidies to be
discovered, two years after the discoveries of 47,XXY,[26] 45,X,[27] and 47,XXX[28] in 1959. Even the
much less common 48,XXYY[29] had been discovered in 1960, a year before 47,XYY.
Screening for those X chromosome aneuploidies was possible by noting the presence or absence of
"female" sex chromatin bodies (Barr bodies) in the nuclei of interphase cells in buccal smears, a technique
developed a decade before the first reported sex chromosome aneuploidy.[30] An analogous technique to
screen for Y-chromosome aneuploidies by noting supernumerary "male" sex chromatin bodies was not
developed until 1970, a decade after the first reported sex chromosome aneuploidy.[31]

The first published report of a man with a 47,XYY karyotype was by internist and cytogeneticist Avery
Sandberg and colleagues at Roswell Park Comprehensive Cancer Center (then known as Roswell Park
Memorial Institute) in Buffalo, New York in 1961. It was an incidental finding in a normal 44-year-old,
6 ft. [183 cm] tall man of average intelligence who was karyotyped because he had a daughter with Down
syndrome.[32] Only a dozen isolated 47,XYY cases were reported in the medical literature in the four years
following the first report by Sandberg.[33]

Then, in December 1965 and March 1966, Nature and The Lancet published the first preliminary reports
by British cytogeneticist Patricia Jacobs and colleagues at the MRC Human Genetics Unit at Western
General Hospital in Edinburgh of a chromosome survey of 315 male patients at State Hospital in Carstairs,
Lanarkshire—Scotland's only special security hospital for developmentally disabled people —that found
nine patients, ages 17 to 36, averaging almost 6 ft. in height (avg. 5'11", range: 5'7" to 6'2"), had a 47,XYY
karyotype, and mischaracterized them as aggressive and violent criminals.[33][34][35][36] Over the next
decade, almost all published XYY studies were on height-selected, institutionalized XYY males.[11]

In January 1968 and March 1968, The Lancet and Science published the first U.S. reports of tall,
institutionalized XYY males by Mary Telfer, a biochemist, and colleagues at the Elwyn Institute.[37] Telfer
found five tall, developmentally disabled XYY boys and men in hospitals and penal institutions in
Pennsylvania, and since four of the five had at least moderate facial acne, reached the erroneous conclusion
that acne was a defining characteristic of XYY males.[37] After learning that convicted mass murderer
Richard Speck had been karyotyped, Telfer not only incorrectly assumed the acne-scarred Speck was
XYY, but reached the false conclusion that Speck was the archetypical XYY male—or "supermale" as
Telfer referred to XYY males outside of peer-reviewed scientific journals.[38]

In April 1968, The New York Times—using Telfer as a main source—introduced the XYY genetic
condition to the general public in a three-part series on consecutive days that began with a Sunday front-
page story about the planned use of the condition as a mitigating factor in two murder trials in Paris[39] and
Melbourne[40]—and falsely reported that Richard Speck was an XYY male and that the condition would
be used in an appeal of his murder conviction.[35][41] The series was echoed the following week by articles
—again using Telfer as a main source—in Time and Newsweek,[42] and six months later in The New York
Times Magazine.[43]

In December 1968, the Journal of Medical Genetics published the first XYY review article—by Michael
Court Brown,[44] director of the MRC Human Genetics Unit—which reported no overrepresentation of
XYY males in nationwide chromosome surveys of prisons and hospitals for developmentally disabled and
mentally ill people in Scotland, and concluded that studies confined to institutionalized XYY males may be
guilty of selection bias, and that long-term longitudinal prospective studies of newborn XYY boys were
needed.[33]

In May 1969, at the annual meeting of the American Psychiatric Association, Telfer and her Elwyn Institute
colleagues reported that case studies of the institutionalized XYY and XXY males they had found
convinced them that XYY males had been falsely stigmatized and that their behavior may not be
significantly different from chromosomally normal 46,XY males.[45]
In June 1969, the National Institute of Mental Health (NIMH) Center for Studies of Crime and
Delinquency held a two-day XYY conference in Chevy Chase, Maryland.[46] In December 1969, with a
grant from the NIMH Center for Studies of Crime and Delinquency, cytogeneticist Digamber Borgaonkar
at Johns Hopkins Hospital began a chromosome survey of (predominantly African-American) boys ages 8
to 18 in all Maryland institutions for delinquent, neglected, or mentally ill juveniles, which was suspended
from February–May 1970 due to an American Civil Liberties Union (ACLU) lawsuit about the lack of
informed consent.[47][48] Concurrently, through 1974, psychologist John Money at Johns Hopkins Hospital
experimented on thirteen XYY boys and men (ages 15 to 37) in an unsuccessful attempt to treat their
history of behavior problems by chemical castration using high-dose Depo-Provera—with side-effects of
weight gain (avg. 26 lbs.) and suicide.[47][49]

In the late 1960s and early 1970s, screening of consecutive newborns for sex chromosome abnormalities
was undertaken at seven centers worldwide: in Denver (Jan 1964–1974), Edinburgh (Apr 1967–Jun 1979),
New Haven (Oct 1967–Sep 1968), Toronto (Oct 1967–Sep 1971), Aarhus (Oct 1969–Jan 1974, Oct
1980–Jan 1989), Winnipeg (Feb 1970–Sep 1973), and Boston (Apr 1970–Nov 1974).[50] The Boston
study, led by Harvard Medical School child psychiatrist Stanley Walzer at Children's Hospital, was unique
among the seven newborn screening studies in that it only screened newborn boys (non-private-ward
newborn boys at the Boston Hospital for Women) and was funded in part by grants from the NIMH Center
for Studies of Crime and Delinquency.[51] The Edinburgh study was led by Shirley Ratcliffe who focused
her career on it and published the results in 1999.[52][53]

1970s

In December 1969, Lore Zech at the Karolinska Institute in Stockholm first reported intense fluorescence of
the A T-rich distal half of the long arm of the Y chromosome in the nuclei of metaphase cells treated with
quinacrine mustard.[54] In April 1970, Peter Pearson and Martin Bobrow at the MRC Population Genetics
Unit in Oxford and Canino Vosa at the University of Oxford reported fluorescent "male" sex chromatin
bodies in the nuclei of interphase cells in buccal smears treated with quinacrine dihydrochloride, which
could be used to screen for Y chromosome aneuploidies like 47,XYY.[55]

In June 1970, The XYY Man was published—the first of seven Kenneth Royce spy novels whose fictional
tall, intelligent, nonviolent XYY hero was a reformed expert cat burglar recruited by British intelligence for
dangerous assignments—and later adapted into a thirteen-episode British summer television series
broadcast in 1976 and 1977.[56] In other fictional television works, a January 1971 episode "By the
Pricking of My Thumbs ..." of the British science fiction TV series Doomwatch featured an XYY boy
expelled from school because his genetic condition led him to be falsely accused of nearly blinding another
boy,[57] a November 1993 episode "Born Bad" of the American police procedural TV series Law & Order
portrayed a 14-year-old XYY sociopathic murderer,[58] and the May 2007 season finale episode "Born To
Kill" of the American police procedural TV series CSI: Miami depicted a 34-year-old XYY serial killer.[59]
The false stereotype of XYY boys and men as violent criminals has also been used as a plot device in the
horror films Il gatto a nove code in February 1971 (dubbed into English as The Cat o' Nine Tails in May
1971) and Alien 3 in May 1992.[35][36]

In December 1970, at the annual meeting of the American Association for the Advancement of Science
(AAAS), its retiring president, geneticist H. Bentley Glass, cheered by the legalization of abortion in New
York,[60] envisioned a future where pregnant women would be required by the government to abort XYY
"sex deviants".[47][61] Mischaracterization of the XYY genetic condition was quickly incorporated into
high school biology textbooks[47][62] and medical school psychiatry textbooks,[47][63] where
misinformation still persists decades later.[36]
In 1973, child psychiatrist Herbert Schreier at Children's Hospital told Harvard Medical School
microbiologist Jon Beckwith of Science for the People that he thought Walzer's Boston XYY study was
unethical; Science for the People investigated the study and filed a complaint with Harvard Medical School
about the study in March 1974.[36] In November 1974, Science for the People went public with their
objections to the Boston XYY study in a press conference and a New Scientist article alleging inadequate
informed consent, a lack of benefit (since no specific treatment was available) but substantial risk (by
stigmatization with a false stereotype) to the subjects, and that the unblinded experimental design could not
produce meaningful results regarding the subjects' behavior.[51] In December 1974, the Harvard Standing
Committee on Medical Research issued a report supporting the Boston XYY study and in March 1975, the
faculty voted 199–35 to allow continuation of the study.[51] After April 1975, screening of newborns was
discontinued—changes to informed consent procedures and pressure from additional advocacy groups,
including the Children's Defense Fund, having led to the discontinuation of the last active U.S. newborn
screening programs for sex chromosome abnormalities in Boston and Denver.[51]

In August 1976, Science published a retrospective cohort study by Educational Testing Service
psychologist Herman Witkin and colleagues that screened the tallest 16% of men (over 184  cm (6'0") in
height) born in Copenhagen from 1944 to 1947 for XXY and XYY karyotypes, and found an increased
rate of minor criminal convictions for property crimes among sixteen XXY and twelve XYY men may be
related to the lower intelligence of those with criminal convictions, but found no evidence that XXY or
XYY men were inclined to be aggressive or violent.[64]

1980s and later

The March of Dimes sponsored five international conferences in June 1974, November 1977, May 1981,
June 1984, and June 1989 and published articles from the conferences in book form in 1979, 1982, 1986,
and 1991 from seven longitudinal prospective cohort studies on the development of over 300 children and
young adults with sex chromosome abnormalities identified in the screening of almost 200,000 consecutive
births in hospitals in Denver, Edinburgh, New Haven, Toronto, Aarhus, Winnipeg, and Boston from 1964
to 1975.[50][65] These seven studies—the only unbiased studies of unselected individuals with sex
chromosome abnormalities—have replaced the older, biased studies of institutionalized individuals in
understanding the development of individuals with sex chromosome abnormalities.[11][66]

In May 1997, Nature Genetics published the discovery by Ercole Rao and colleagues of the X/Y
chromosome pseudoautosomal region (PAR1) SHOX gene, haploinsufficiency of which leads to short
stature in Turner syndrome (45,X).[67] It was subsequently postulated that the increased gene dosage of
three SHOX genes leads to tall stature in the sex chromosome trisomies 47,XXX, 47,XXY, and
47,XYY.[8]

In July 1999, Psychological Medicine published a case-control study by Royal Edinburgh Hospital
psychiatrist Michael Götz and colleagues that found an increased rate of criminal convictions among
seventeen XYY men identified in the Edinburgh newborn screening study compared to an above-average-
IQ control group of sixty XY men, which multiple logistic regression analysis indicated was mediated
mainly through lowered intelligence.[68]

In June 2002, the American Journal of Medical Genetics published results from a longitudinal prospective
cohort Denver Family Development Study led by pediatrician and geneticist Arthur Robinson,[69] which
found that in fourteen prenatally diagnosed 47,XYY boys (from high socioeconomic status families), IQ
scores available for six boys ranged from 100 to 147 with a mean of 120.[70] For the eleven of fourteen
boys with siblings, in nine instances their siblings were stronger academically, but in one case the subject
was performing equal to, and in another case superior to, his siblings.[70]
Society and culture
Some medical geneticists question whether the term "syndrome" is appropriate for this condition[6] because
many people with this karyotype appear normal.[6][11]

See also
Klinefelter syndrome
XXYY syndrome
XYYY syndrome
XYYYY syndrome
Turner syndrome
Trisomy X

References
1. "47,XYY syndrome" (https://ghr.nlm.nih.gov/condition/47xyy-syndrome). Genetics Home
Reference. January 2009. Retrieved 2017-03-19.
2. "XYY Syndrome" (https://rarediseases.org/rare-diseases/xyy-syndrome/). NORD (National
Organization for Rare Disorders). 2012. Retrieved 11 November 2017.
3. "47, XYY syndrome" (https://rarediseases.info.nih.gov/diseases/5674/47-xyy-syndrome).
Genetic and Rare Diseases Information Center (GARD). 2017. Retrieved 11 November
2017.
4. Bostwick, David G.; Cheng, Liang (2014). Urologic Surgical Pathology E-Book (https://book
s.google.com/books?id=wrHQAgAAQBAJ&pg=PA682). Elsevier Health Sciences. p. 682.
ISBN 9780323086196.
5. Nielsen, Johannes (1998). "How is height growth?" (https://web.archive.org/web/201003070
91453/http://www.aaa.dk/TURNER/ENGELSK/XYY.HTM#height). XYY males. An
orientation. The Turner Center, Aarhus Psychiatric Hospital, Risskov, Denmark. Archived
from the original (http://www.aaa.dk/TURNER/ENGELSK/XYY.HTM#height) on 2010-03-07.
6. Gravholt, Claus Højbjerg (2013). "Sex chromosome abnormalities". In Pyeritz, Reed E.;
Rimoin, David L.; Korf, Bruce R. (eds.). Emery and Rimoin's principles and practice of
medical genetics (6th ed.). San Diego: Elsevier Academic Press. pp. 1180–1211. ISBN 978-
0-12-383834-6. "This sex chromosome aneuploidy is not characterized by distinct physical
features and, because there does not appear to be recognizable pattern of
neurodevelopment or behavioral characteristics, the use of the term syndrome may be
inappropriate. Males with an extra Y chromosome are phenotypically normal and most never
come to medical attention.

Pubertal development, testicular histology, and spermatogenesis are most often normal.

…it appears that XY pairing and recombination occur normally in 47,XYY, the extra Y
chromosome being lost during spermatogenesis, so that many XYY men have fathered
chromosomally normal children. It has generally been observed that reproductive risks for
males with 47,XYY are no higher than for euploid males, despite the fact that in situ
hybridization studies demonstrated a lower frequency of single Y-bearing sperm than
expected and a variably higher rate of disomic XX, XY and YY spermatozoa in males with
47,XYY.

Population-based studies have demonstrated that intellectual abilities tend to be slightly

lower than those of siblings and matched controls and that boys with an extra Y
chromosome are more likely to require educational help. However, intelligence is usually
well within the normal range.

During school age, learning disabilities requiring educational intervention are present in
approximately 50% and are as responsive to therapy as they are in children with normal
chromosomes. Expressive and receptive language delays and reading disorders are
common."
7. Ratcliffe, Shirley G.; Pan, Huiqi; McKie, Mark (November–December 1992). "Growth during
puberty in the XYY boy". Annals of Human Biology. 19 (6): 579–587.
doi:10.1080/03014469200002392 (https://doi.org/10.1080%2F03014469200002392).
PMID 1476413 (https://pubmed.ncbi.nlm.nih.gov/1476413).
 8. Cohen, Pinchas; Shim, Melanie (2007). "Hyperpituitarism, tall stature, and overgrowth
syndromes". In Kliegman, Robert M.; Behrman, Richard E.; Jenson, Hal B.; Stanton, Bonita
F. (eds.). Nelson textbook of pediatrics (18th ed.). Philadelphia: Saunders. pp. 2303–2307.
ISBN 978-1-4160-2450-7. p. 2304: Table 561-1. Differential diagnosis of tall stature and
overgrowth syndromes. Postnatal overgrowth leading to childhood tall stature—includes:
Klinefelter syndrome (XXY), SHOX excess syndromes, XYY.
Kanaka-Gantenbein, Christina; Kitsiou, Sophia; Mavrou, Ariadni; Stamoyannou, Lela;
Kolialexi, Aggeliki; Kekou, Kyriaki; Liakopoulou, Magda; Chrousos, George (April 2004).
"Tall stature, insulin resistance, and disturbed behavior in a girl with the triple X
syndrome harboring three SHOX genes: offspring of a father with mosaic Klinefelter
syndrome but with two maternal X chromosomes". Horm Res. 61 (5): 205–210.
doi:10.1159/000076532 (https://doi.org/10.1159%2F000076532). PMID 14752208 (http
s://pubmed.ncbi.nlm.nih.gov/14752208). S2CID 41958098 (https://api.semanticscholar.or
g/CorpusID:41958098).
Aksglaede, Lise; Skakkebaek, Niels E.; Juul, Anders (January 2008). "Abnormal sex
chromosome constitution and longitudinal growth: serum levels of insulin-like growth
factor (IGF)-I, IGF binding protein-3, luteinizing hormone, and testosterone in 109 males
with 47,XXY, 47,XYY, or sex-determining region of the Y chromosome (SRY)-positive
46,XX karyotypes" (http://jcem.endojournals.org/cgi/reprint/93/1/169.pdf) (PDF). J Clin
Endocrinol Metab. 93 (1): 169–176. doi:10.1210/jc.2007-1426 (https://doi.org/10.1210%2
Fjc.2007-1426). PMID 17940117 (https://pubmed.ncbi.nlm.nih.gov/17940117).
Tüttelmann, Frank; Gromoll, Jörg (2010). "Novel genetic aspects of Klinefelter's
syndrome" (https://doi.org/10.1093%2Fmolehr%2Fgaq019). Mol Hum Reprod. 16 (6):
386–95. doi:10.1093/molehr/gaq019 (https://doi.org/10.1093%2Fmolehr%2Fgaq019).
PMID 20228051 (https://pubmed.ncbi.nlm.nih.gov/20228051).
9. Plewig, Gerd; Kligman, Albert M. (2000). Acne and rosacea (3rd ed.). Philadelphia:
Springer-Verlag. p. 377. ISBN 978-3-540-66751-3.
10. Ratcliffe, Shirley G.; Read, Graham; Pan, Huiqi; Fear, Claudine; Lindenbaum, Richard;
Crossley, Jennifer (September 1994). "Prenatal testosterone levels in XXY and XYY males".
Horm Res. 42 (3): 106–109. doi:10.1159/000184157 (https://doi.org/10.1159%2F00018415
7). PMID 7995613 (https://pubmed.ncbi.nlm.nih.gov/7995613).
11. Milunsky, Jeff M. (2010). "Prenatal diagnosis of sex chromosome abnormalities". In
Milunsky, Aubrey; Milunsky, Jeff M. (eds.). Genetic disorders and the fetus: diagnosis,
prevention and treatment (6th ed.). Oxford: Wiley-Blackwell. pp. 273–312. ISBN 978-1-4051-
9087-9. "The addition of a Y chromosome to a normal male chromosome constitution does
not produce a discernible phenotype. Males with 47,XYY cannot be characterized by
discriminating physical or behavioral features. The first diagnosis of this condition, therefore,
was a karyotypic and not a phenotypic discovery.

Pubertal development is normal and these men are usually fertile."

12. Gardner, R.J. McKinlay; Sutherland, Grant R. (2004). Chromosome abnormalities and
genetic counseling (3rd ed.). Oxford: Oxford University Press. pp. 29–30, 42, 199, 207, 257,
263, 393, 424–430. ISBN 978-0-19-514960-9. "From early meiotic studies, it was concluded
that the extra Y was eliminated before the spermatocyte formed, with an X-Y bivalent usually
seen at diakinesis, and more recent studies support this concept. However, FISH analyses
of sperm, enabling hundreds of cells to be analyzed, have shown a very small increased
faction of 24,YY spermatozoa in the ejaculate of XYY men (Table 12-1). Thus it appears the
vast majority of spermatocytes lose the extra Y before entering meiosis, a very few XYY
primary spermatocytes are able to slip through and produce YY (and XY) spermatozoa.
These cytogenetic findings parallel the observation that XYY men have no discernible
increase in risk to have children with a sex chromosome abnormality. A true increased risk of
a fraction of a per cent could be distinguished only with the greatest of difficulty when the
background population risk is of a similar order of magnitude. As for the autosomes, no
convincing case exists for any increased risk for aneuploidy in the children of men with
47,XYY.

To our knowledge, there is no report of a discernibly increased risk for the XYY male to have
chromosomally abnormal children. A slight increase in gonosomal imbalances in sperm
(Table 12-1) might nevertheless lead some to choose prenatal diagnosis."
13. Gardner, R.J. McKinlay; Sutherland, Grant R.; Shaffer, Lisa G. (2012). Chromosome
abnormalities and genetic counseling (4th ed.). Oxford: Oxford University Press. pp. 9–10,
12, 36, 52, 221, 224, 230, 285–286, 293, 440–441, 477–480, 484. ISBN 978-0-19-537533-6.
"The two other conditions, XXX and XYY, apparently have little effect on fertility; furthermore,
they are not discernibly associated with any increased risk for chromosomally abnormal
offspring.

While the IQ is in the normal range, it is usually lower than those of sibs or controls, and
about half of XYY boys have a mild learning difficulty, and may display poor attention and
impulsivity in the classroom."
14. Bender, Bruce G.; Puck, Mary H.; Salbenblatt, James A.; Robinson, Arthur (1986). "Cognitive
development of children with sex chromosome abnormalities" (https://archive.org/details/gen
eticslearning0000unse/page/175). In Smith, Shelley D. (ed.). Genetics and learning
disabilities. San Diego: College-Hill Press. pp. 175–201 (https://archive.org/details/geneticsl
earning0000unse/page/175). ISBN 978-0-88744-141-7. "Figure 8-3. Estimated full-scale IQ
distributions for SCA and control children: 47,XXX (mean ~83), 45,X & Variant (mean ~85),
47,XXY (mean ~95), 47,XYY (mean ~100), Controls and SCA Mosaics (mean ~104)"
15. Leggett, Victoria; Jacobs, Patricia; Nation, Kate; Scerif, Gaia; Bishop, Dorothy V. M.
(February 2010). "Neurocognitive outcomes of individuals with a sex chromosome trisomy:
XXX, XYY, or XXY: a systematic review" (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC282
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16. Netley, Charles T. (1986). "Summary overview of behavioural development in individuals
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IQ=100.2 (range 66–121), average performance IQ=104.3 (range 83–131), average full-
scale IQ=102.3; 86 XY control boys matched by the 1970 Registrar General's Classification
of Social Class based on their father's occupation: average full-scale IQ=116.1;

15 XYY boys with siblings: average verbal IQ=104.0, average performance IQ=106.7;
siblings of XYY boys: average verbal IQ=112.9, average performance IQ=114.6."
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32. Sandberg, Avery A.; Koepf, George F.; Ishihara, Takaaki; Hauschka, Theodore S. (August
26, 1961). "An XYY human male". Lancet. 278 (7200): 488–489. doi:10.1016/S0140-
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PMID 13746118 (https://pubmed.ncbi.nlm.nih.gov/13746118).
Hauschka, Theodore S.; Hasson, John E.; Goldstein, Milton N.; Koepf, George F.;
Sandberg, Avery A. (March 1962). "An XYY man with progeny indicating familial
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Am J Hum Genet. 14 (1): 22–30. PMC 1932182 (https://www.ncbi.nlm.nih.gov/pmc/article
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34. Jacobs, Patricia A.; Brunton, Muriel; Melville, Marie M.; Brittain, Robert P.; McClemont,
William F. (December 25, 1965). "Aggressive behavior, mental sub-normality and the XYY
male". Nature. 208 (5017): 1351–2. Bibcode:1965Natur.208.1351J (https://ui.adsabs.harvar
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api.semanticscholar.org/CorpusID:4145850).
Price, William H.; Strong, John A.; Whatmore, Peter B.; McClemont, William F. (March
12, 1966). "Criminal patients with XYY sex-chromosome complement". Lancet. 287
(7437): 565–6. doi:10.1016/S0140-6736(66)90760-4 (https://doi.org/10.1016%2FS0140-
6736%2866%2990760-4). PMID 4159988 (https://pubmed.ncbi.nlm.nih.gov/4159988).
editorial (March 12, 1966). "The YY syndrome". Lancet. 287 (7437): 583–4.
doi:10.1016/S0140-6736(66)90771-9 (https://doi.org/10.1016%2FS0140-6736%2866%2
990771-9). PMID 4159658 (https://pubmed.ncbi.nlm.nih.gov/4159658).
Price, William H.; Whatmore, Peter B. (February 25, 1967). "Criminal behavior and the
XYY male" (https://doi.org/10.1038%2F213815a0). Nature. 213 (5078): 815.
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Price, William H.; Whatmore, Peter B. (March 4, 1967). "Behaviour disorders and pattern
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Jacobs, Patricia A. (September 1982). "The William Allan Memorial Award address:
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24-8.
35. Green, Jeremy (1985). "Media sensationalism and science: The case of the criminal
chromosome" (https://archive.org/details/expositoryscienc0000unse/page/139). In Shinn,
Terry; Whitley, Richard (eds.). Expository science: Forms and functions of popularisation.
Dordrecht, Holland: D. Reidel Pub. Co. pp. 139–161 (https://archive.org/details/expositorysci
enc0000unse/page/139). ISBN 978-90-277-1831-0.
36. Beckwith, Jonathan R. (2002). "The myth of the criminal chromosome" (https://archive.org/de
tails/makinggenesmakin0000beck). Making genes, making waves: A social activist in
science. Cambridge, Mass.: Harvard University Press. pp. 116–134 (https://archive.org/detail
s/makinggenesmakin0000beck/page/116). ISBN 978-0-674-00928-8.
37. Telfer, Mary A.; Baker, David; Longtin, Lucien (January 13, 1968). "YY syndrome in an
American Negro". Lancet. 291 (7533): 95. doi:10.1016/S0140-6736(68)90107-4 (https://doi.o
rg/10.1016%2FS0140-6736%2868%2990107-4). PMID 4169701 (https://pubmed.ncbi.nlm.n
ih.gov/4169701).
Telfer, Mary A.; Baker, David; Clark, Gerald R.; Richardson, Claude E. (March 15, 1968).
"Incidence of gross chromosomal errors among tall criminal American males" (https://se
manticscholar.org/paper/03f33ad6030227c7d21cf574e0deab82e8b14327). Science.
159 (3820): 1249–50. Bibcode:1968Sci...159.1249T (https://ui.adsabs.harvard.edu/abs/1
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ence.159.3820.1249). JSTOR 1723887 (https://www.jstor.org/stable/1723887).
PMID 5715587 (https://pubmed.ncbi.nlm.nih.gov/5715587). S2CID 27416349 (https://api.
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38. Telfer, Mary A. (November–December 1968). "Are some criminals born that way?". Think. 34
(6): 24–8. ISSN 0040-6112 (https://www.worldcat.org/issn/0040-6112).

Why do men commit crimes of violence? For some, the urge to violence may be
inborn—traced to something called the Y chromosome...

Once in every 500 male births, for example, the sex chromosome complement is
XXY rather than XY, thus erring in the direction of femaleness. The resulting
individual, called a Klinefelter male, is usually retarded, unusually tall and sterile.

Erring in the other direction, however, is the XYY complement resulting in the
"supermale." He is also unusually tall and somewhat retarded, but appears to be
highly, perhaps too highly, sexually motivated...

We were intrigued by Dr. Jacobs' contention that an extra Y chromosome results

in tall stature, mild mental retardation, and severely disordered personality
characterized by violent, aggressive behavior. We therefore planned to confirm
and extend her studies.

Syndrome Status for the XYY

The XXY male has long been thought to display a constellation of symptoms that
makes him diagnosable; that is, he has achieved syndrome status. It would seem
that the XYY male is fast achieving similar status. His symptoms, as we and
other laboratories tend to think of them, are: extremely tall stature, long limbs and
strikingly long arm span, facial acne, mild mental retardation, severe mental
illness (including psychosis) and aggressive, antisocial behavior with a long
history of arrests, frequently beginning at an early age.

On reading newspaper accounts of Richard Speck, who murdered eight Chicago

student nurses in 1966, we noted all these traits and therefore concluded that
Speck was a likely candidate for the XYY disorder. Independently, a cytogenetic
laboratory in Chicago confirmed this hunch, reinforcing our inclination to believe
that the XYY syndrome is really coming of age. It seems quite possible that in the
XYY male, exemplified by Speck, biologists are describing in genetic terms a
certain type of defective criminal who has long been explicitly recognized by the
forensic psychiatrist.

39. Daniel Hugon, Paris, France

Garrison, Lloyd (October 15, 1968). "French murder jury rejects chromosome defect as
defense" (https://www.nytimes.com/1968/10/15/archives/french-murder-jury-rejects-chro
mosome-defect-as-defense.html). The New York Times. p. 5.
"Criminal law: Question of Y" (http://www.time.com/time/magazine/article/0,9171,900408,
00.html). Time. Vol. 92, no. 17. October 25, 1968. p. 76.
40. Lawrence Hannell, Melbourne, Australia
"Extra chromosome brings acquittal on murder charge" (https://www.nytimes.com/1968/1
0/10/archives/extra-chromosome-brings-an-acquittal-on-murder-charge.html). The New
York Times. October 10, 1968. p. 94.
Auerbach, Stuart (October 10, 1968). "Genetic abnormality is basis for acquittal" (https://p
qasb.pqarchiver.com/washingtonpost_historical/access/185091562.html?FMT=ABS&F
MTS=ABS:AI). The Washington Post. p. A1.
Getze, George (February 3, 1969). "Australia precedent for XYY syndrome case held
dubious" (https://pqasb.pqarchiver.com/latimes/access/673351452.html?FMT=ABS&FM
TS=ABS:AI). Los Angeles Times. p. C1. An Australian murder case that was reported to
have been decided on the basis of the so-called XYY syndrome actually was not
concerned with chromosome counts at all.
41. Lyons, Richard D. (April 21, 1968). "Genetic abnormality is linked to crime; Genetics linked
to violent crimes" (https://www.nytimes.com/1968/04/21/archives/genetic-abnormality-is-link
ed-to-crime-genetics-linked-to-violent.html). The New York Times. p. 1.
Lyons, Richard D. (April 22, 1968). "Ultimate Speck appeal may cite a genetic defect" (htt
ps://www.nytimes.com/1968/04/22/archives/ultimate-speck-appeal-may-cite-a-genetic-de
fect.html). The New York Times. p. 43.
Lyons, Richard D. (April 23, 1968). "Chromosome test for flaws costly; 2 scientists cite
scarcity of skilled aides for analyses" (https://www.nytimes.com/1968/04/23/archives/chr
omosome-test-for-flaws-costly-2-scientists-cite-scarcity-of.html). The New York Times.
p. 27.
editorial (April 23, 1968). "Nature or nurture?" (https://www.nytimes.com/1968/04/23/archi
ves/nature-or-nurture.html). The New York Times. p. 46.
"Geneticist: Didn't test Speck". Chicago Sun-Times. April 23, 1968. p. 8.

Dr. Pergament said he and Dr. Sato, a research fellow, had absolutely no
connection with the Speck case and never examined Speck. The report was
also denied by Speck's attorney, Public Defender Gerald W. Getty. "I never
knew those doctors existed before I read about them in the paper," Getty said.
Getty did say that a chromosomal test was performed on Speck, before
Speck's trial, by a geneticist from outside the Chicago area. He declined to
identify the geneticist, and he said the results of the test never have been
disclosed. "It was agreed," he said, "that the results would not be disclosed
unless I wished them disclosed. And I still don't." In any case, Getty said, the
results could not be used in an appeal—since they were not part of the trial
evidence. If anything, he said, they could only be used in connection with a
new trial.

"Getty tells Speck case plea basis; 10 issues are raised regarding trial" (https://pqasb.pq
archiver.com/chicagotribune/access/586226742.html?dids=586226742:586226742&FM
T=ABS&FMTS=ABS:AI). Chicago Tribune. November 26, 1968. p. A16.

At the same time he made public reports from Vanderbilt University showing
no abnormal makeup of Speck's chromosomes...

Getty displayed a letter of Sept. 26, 1966, relating that photographic evidence
of 18 cells from Speck's blood showed no chromosome abnormality. He also
exhibited a letter of last July 3, indicating that 100 of 101 cells in a sample of
Speck's blood studied after the original tests showed the normal 46
chromosomes. The other cell had 45, regarded by the Vanderbilt
investigators as having no significance.
 Engel, Eric (September 1972). "The making of an XYY". Am J Ment Defic. 77 (2): 123–7.
PMID 5081078 (https://pubmed.ncbi.nlm.nih.gov/5081078).—article by Vanderbilt
University endocrinologist and geneticist Eric Engel, who performed two confidential
chromosome analyses of Speck in September 1966 and June 1968. Based on
mischaracterizations of XYY males as aggressive and violent criminals in the December
1965 and March 1966 preliminary reports by Jacobs, et al., Engel had made an
unsolicited request in August 1966 to Speck's appointed defense attorney, Cook County
Public Defender Gerald W. Getty, to confidentially karyotype Speck—which was
repeated after false news reports in April 1968 that Speck was XYY.
42. "Of chromosomes & crime" (https://web.archive.org/web/20101029122601/http://www.time.c
om/time/magazine/article/0,9171,841254,00.html). Time. Vol. 91, no. 18. May 3, 1968. p. 41.
Archived from the original (http://www.time.com/time/magazine/article/0,9171,841254,00.htm
l) on October 29, 2010.
"Born bad?". Newsweek. Vol. 76, no. 19. May 6, 1968. p. 87.
43. Stock, Robert W. (October 20, 1968). "The XYY and the criminal" (https://www.nytimes.com/
1968/10/20/archives/the-xyy-and-the-criminal-the-xyy-and-the-criminal.html). The New York
Times Magazine. p. SM30.
44. The first XYY review article, by W. Michael Court Brown, a physician and world authority on
radiation biology and cytogenetics, was published in December 1968, the month he died at
age 50. Court Brown had established the MRC Clinical Effects of Radiation Unit at Western
General Hospital in Edinburgh in 1956, which was renamed the MRC Clinical and
Population Cytogenetics Unit in 1967 (and subsequently renamed the MRC Human
Genetics Unit in 1988). In 1962, Court Brown had been the first to suggest—based on
findings of antisocial behavior in some institutionalized Klinefelter syndrome (47,XXY)
patients and psychosis in some institutionalized Triple X syndrome (47,XXX) patients—that
individuals with sex chromosome abnormalities could be held in law to suffer from
diminished responsibility.
Court Brown, W. Michael (September 8, 1962). "Sex chromosomes and the law". Lancet.
280 (7254): 508–509. doi:10.1016/S0140-6736(62)90378-1 (https://doi.org/10.1016%2F
S0140-6736%2862%2990378-1).
"William Michael Court Brown". Lancet. 293 (7584): 57–58. January 4, 1969.
doi:10.1016/S0140-6736(69)91029-0 (https://doi.org/10.1016%2FS0140-6736%2869%2
991029-0). PMID 4178806 (https://pubmed.ncbi.nlm.nih.gov/4178806).
Harnden, David G. (March 1969). "W.M. Court Brown" (https://www.ncbi.nlm.nih.gov/pm
c/articles/PMC1468708). J Med Genet. 6 (1): 107–108. doi:10.1136/jmg.6.1.107 (https://d
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ISBN 978-0-387-90364-4.
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s://www.nytimes.com/1969/05/06/archives/a-kind-word-said-for-the-xyy-men-psychiatrist-cite
s-evidence-many-a.html). The New York Times. Associated Press. May 6, 1969. p. 93.
Clark, Gerald R.; Telfer, Mary A.; Baker, David; Rosen, Marvin (May 1970). "Sex
chromosomes, crime, and psychosis" (http://ajp.psychiatryonline.org/cgi/content/abstract/
126/11/1659). Am J Psychiatry. 126 (11): 1659–63. doi:10.1176/ajp.126.11.1659 (https://
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443650).
Baker, David; Telfer, Mary A.; Richardson, Claude E.; Clark, Gerald R. (November 2,
1970). "Chromosome errors in men with antisocial behavior. Comparison of selected
men with Klinefelter syndrome and XYY chromosome pattern" (http://jama.ama-assn.org/
cgi/content/abstract/214/5/869). JAMA. 214 (5): 869–78. doi:10.1001/jama.214.5.869 (htt
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46. Shah, Saleem A. (1970). Report on the XYY chromosomal abnormality. Public Health
Service publication No. 2103. Chevy Chase, Md.: NIMH Center for Studies of Crime and
Delinquency. OCLC 235264 (https://www.worldcat.org/oclc/235264). June 19–20, 1969 XYY
conference.
47. Pyeritz, Reed; Schreier, Herb; Madansky, Chuck; Miller, Larry; Beckwith, Jon (1977). "The
XYY male: The making of a myth". In Ann Arbor Science for the Peopleial Collective (ed.).
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48. "Gene abnormality set for Md. study" (https://pqasb.pqarchiver.com/washingtonpost_historic
al/access/149109532.html?FMT=ABS&FMTS=ABS:AI). The Washington Post. Associated
Press. December 27, 1969. p. B7.
Bauer, Diane (January 22, 1970). "Maryland tests for criminal potential". The Washington
Daily News. p. 7. reprinted in Katz (1972). Experimentation with human beings, pp. 342–
343.
Cohen, Richard M. (February 7, 1970). "Genetic study is opposed" (https://pqasb.pqarchi
ver.com/washingtonpost_historical/access/158044782.html?
FMT=ABS&FMTS=ABS:AI). The Washington Post. p. B2.
Bauer, Diane (February 13, 1970). "XYY tests stop". The Washington Daily News. p. 5.
reprinted in Katz (1972). Experimentation with human beings, pp. 343–344.
Bauer, Diane (May 4, 1970). "Criminal-prone tests resumed". The Washington Daily
News. p. 1. reprinted in Katz (1972). Experimentation with human beings, p. 344.
"Congenital criminals?". Newsweek. Vol. 75, no. 20. May 18, 1970. pp. 98–99.
Katz, Jay; Capron, Alexander Morgan; Glass, Eleanor Swift (1972). Experimentation with
human beings; the authority of the investigator, subject, professions, and state in the
human experimentation process (https://archive.org/details/experimentationw0000katz).
New York: Russell Sage Foundation. pp. 342–346 (https://archive.org/details/experiment
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Borgaonkar, Diagamber S.; Shah, Saleem A. (1974). "The XYY chromosome male—or
syndrome?". In Steinberg, Arthur Gerald; Bearn, Alexander G. (eds.). Progress in
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Borgaonkar, Diagamber S. (1978). "Cytogenic screening of community-dwelling males"
(https://archive.org/details/geneticissuesinp00cohe/page/215). In Cohen, Bernice H.;
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in the genetics of aggressiveness". In Roelcke, Volker; Maio, Giovanni (eds.). Twentieth
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Americans" (https://archive.org/details/medicalapartheid00wash/page/279). Medical
apartheid : the dark history of experimentation on black Americans from colonial times to
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49. Blumer, Dietrich; Migeon, Claude (February 1975). "Hormone and hormonal agents in the
treatment of aggression". J Nerv Ment Dis. 160 (2): 127–137. doi:10.1097/00005053-
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Money, John; Wiedeking, Claus; Walker, Paul; Migeon, Claude; Meyer, Walter;
Borgaonkar, Digamber (1975). "47,XYY and 46,XY males with antisocial and/or sex-
offending behavior: antiandrogen therapy plus counseling". Psychoneuroendocrinology.
1 (2): 165–176. doi:10.1016/0306-4530(75)90008-6 (https://doi.org/10.1016%2F0306-45
30%2875%2990008-6). PMID 1234655 (https://pubmed.ncbi.nlm.nih.gov/1234655).
S2CID 41068306 (https://api.semanticscholar.org/CorpusID:41068306).—two other XYY
boys (age 10) were deemed too young for chemical castration.
Wiedeking, Claus; Money, John; Walker, Paul (May 1979). "Follow-up of 11 XYY males
with impulsive and/or sex-offending behaviour". Psychol Med. 9 (2): 287–292.
doi:10.1017/S0033291700030786 (https://doi.org/10.1017%2FS0033291700030786).
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50. Robinson, Arthur; Lubs, Herbert A.; Bergsma, Daniel, eds. (1979). Sex chromosome
aneuploidy: prospective studies on children. Birth defects original article series 15 (1). New
York: Alan R. Liss. ISBN 978-0-8451-1024-9.
Stewart, Donald A., ed. (1982). Children with sex chromosome aneuploidy: follow-up
studies. Birth defects original article series 18 (4). New York: Alan R. Liss. ISBN 978-0-
8451-1052-2.
Ratcliffe, Shirley G.; Paul, Natalie, eds. (1986). Prospective studies on children with sex
chromosome aneuploidy. Birth defects original article series 22 (3). New York: Alan R.
Liss. ISBN 978-0-8451-1062-1.
Evans, Jane A.; Hamerton, John L.; Robinson, Arthur, eds. (1991). Children and young
adults with sex chromosome aneuploidy: follow-up, clinical and molecular studies. Birth
defects original article series 26 (4). New York: Wiley-Liss. ISBN 978-0-471-56846-9.
51. Beckwith, Jon; King, Jonathan (November 1974). "The XYY syndrome: a dangerous myth"
(https://books.google.com/books?id=XAU4aZVrYv4C&pg=PA474). New Scientist. 64 (923):
474–476. PMID 11664346 (https://pubmed.ncbi.nlm.nih.gov/11664346).
Brody, Jane E. (November 15, 1974). "Scientists' group terms Boston study of children
with extra sex chromosome unethical and harmful" (https://www.nytimes.com/1974/11/1
5/archives/scientists-group-terms-boston-study-of-children-with-extra-sex.html). The New
York Times. p. 93.
Knox, Richard (November 16, 1974). "Scientists oppose survey of chromosome
disorder" (https://pqasb.pqarchiver.com/boston/access/1975367112.html?FMT=ABS&F
MTS=ABS:AI). The Boston Globe. p. 3.
Culliton, Barbara J. (November 22, 1974). "Patients' rights: Harvard is site of battle over
X and Y chromosomes". Science. 186 (4165): 715–717. Bibcode:1974Sci...186..715C (h
ttps://ui.adsabs.harvard.edu/abs/1974Sci...186..715C).
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JSTOR 1739961 (https://www.jstor.org/stable/1739961). PMID 11643569 (https://pubme
d.ncbi.nlm.nih.gov/11643569).
Brody, Jane E. (December 14, 1974). "Harvard backs genetic study; research involving
young with XYY chromosome had been criticized" (https://www.nytimes.com/1974/12/14/
archives/harvard-backs-genetic-study-research-involving-young-with-xyy.html). The New
York Times. p. 20.
Bruzelius, Nils (December 15, 1974). "Harvard Medical School panel rejects plea to end
gene study" (https://pqasb.pqarchiver.com/boston/access/2056634312.html?FMT=ABS&
FMTS=ABS:AI). The Boston Globe. p. 8.
Culliton, Barbara J. (December 27, 1974). "Briefing: Harvard faculty says XYY study
should continue". Science. 186 (4170): 1188–1189.
doi:10.1126/science.186.4170.1189-b (https://doi.org/10.1126%2Fscience.186.4170.118
9-b). JSTOR 1739250 (https://www.jstor.org/stable/1739250). PMID 17833922 (https://pu
bmed.ncbi.nlm.nih.gov/17833922).
Beckwith, Jon; Elseviers, Dirk; Gorni, Luigi; Mandansky, Chuck; Csonka, Leslie; King,
Jonathan (January 31, 1975). "Harvard XYY study". Science. 187 (4174): 298–9.
Bibcode:1975Sci...187..298B (https://ui.adsabs.harvard.edu/abs/1975Sci...187..298B).
doi:10.1126/science.11643259 (https://doi.org/10.1126%2Fscience.11643259).
PMID 11643259 (https://pubmed.ncbi.nlm.nih.gov/11643259).
"Harvard vote backs child behavior study" (https://pqasb.pqarchiver.com/boston/access/1
974822802.html?FMT=CITE&FMTS=CITE:AI). The Boston Globe. March 15, 1975. p. 7.
"The Harvard Medical School faculty voted last night 199–35, to allow continuation of
studies at Children's Hospital Medical Center and at Boston Hospital for Women on
children with an extra sex chromosome."
Brody, Jane E. (June 20, 1975). "Babies' screening is ended in Boston; extra
chromosome study stirred controversy on its ethics and value" (https://www.nytimes.com/
1975/06/20/archives/babies-screening-is-ended-in-boston-extra-chromosome-study-stirr
ed.html). The New York Times. p. 6. "Dr. Walzer said that when he stopped screening on
the study's fifth anniversary in April,..."
Culliton, Barbara J. (June 27, 1975). "XYY: Harvard researcher under fire stops newborn
screening". Science. 188 (4195): 1284–1285. Bibcode:1975Sci...188.1284C (https://ui.a
dsabs.harvard.edu/abs/1975Sci...188.1284C). doi:10.1126/science.11643276 (https://do
i.org/10.1126%2Fscience.11643276). JSTOR 1741001 (https://www.jstor.org/stable/174
1001). PMID 11643276 (https://pubmed.ncbi.nlm.nih.gov/11643276).
 Knox, Richard (July 6, 1975). "XYY battle is over, research ethic war isn't" (https://pqasb.
pqarchiver.com/boston/access/2024063982.html?FMT=ABS&FMTS=ABS:AI). The
Boston Globe. p. A4. "In May...Walzer nevertheless decided to cut short his XYY
screening by about eight months."
Weiss, Philip (September 15, 1975). "Ending the test for extra chromosomes" (http://ww
w.thecrimson.com/article/1975/9/15/ending-the-test-for-extra-chromosomes/). The
Harvard Crimson.
Bauer, Diane; Bayer, Ronald; Beckwith, Jonathan; Bermant, Gordon; Borgaonkar,
Digamber S.; Callahan, Daniel; Caplan, Arthur; Conrad, John; Culver, Charles M.;
Dworkin, Gerald; Edgar, Harold; Gaylin, Willard; Gerald, Park; Harris, Clarence; King,
Johnathan; Macklin, Ruth; Mazur, Allan; Michels, Robert; Mone, Carola; Petchesky,
Rosalind; Powledge, Tabitha M.; Pyeritz, Reed E.; Robinson, Arthur; Scanlon, Thomas;
Shah, Saleem A.; Shannon, Thomas A.; Steinfels, Margaret; Swazey, Judith P.; Wachtel,
Paul; Walzer, Stanley (August 1980). "The XYY controversy: researching violence and
genetics". Hastings Cent Rep. 10 (4): Suppl 1–32. doi:10.2307/3560454 (https://doi.org/1
0.2307%2F3560454). JSTOR 3560454 (https://www.jstor.org/stable/3560454).
PMID 7399889 (https://pubmed.ncbi.nlm.nih.gov/7399889). "Stanley Walzer: On the
issue of informed consent prior to newborn chromosome screening, Science for the
People proved correct. They had predicted that the amount of information that had to be
shared prior to screening was so extensive and complex that true informed consent was
impossible to obtain at that point.

Arthur Robinson: When we stopped in 1974, we had done 40,000 analyses. From an
epidemiological point of view, I would have preferred to have done 80,000... Why did we
stop? Well, in the first place there was the informed consent problem. When we started in
1964 feelings about informed consent were very different. Try to imagine how one would
go about getting truly informed consent from 40,000 people. With the implications of what
we would find, in a sex chromosome variation, it would be an almost impossible task.
That's one reason why we stopped."
52. Sapietis, Una; Butler, Gary (21 July 2014). "Obituary: Shirley Ratcliffe". BMJ. 349: g4716.
doi:10.1136/bmj.g4716 (https://doi.org/10.1136%2Fbmj.g4716). S2CID 220108224 (https://a
pi.semanticscholar.org/CorpusID:220108224).
53. "Archive record: Dr Shirley Ratcliffe and the Edinburgh MRC Clinical and Population
Cytogenetics Unit Study of Long Term Outcomes for Children Born with Sex Chromosome
Abnormalities" (http://archives.wellcome.ac.uk/DServe/dserve.exe?dsqIni=Dserve.ini&dsqA
pp=Archive&dsqCmd=Show.tcl&dsqDb=Catalog&dsqSearch=(AltRefNo=%27pp/sra%27)&
dsqPos=0). Wellcome Library Western Manuscripts and Archives catalogue. Retrieved
27 February 2018.
54. Zech, Lore (December 1969). "Investigation of metaphase chromosomes with DNA-binding
flurochromes". Exp Cell Res. 58 (2–3): 463. doi:10.1016/0014-4827(69)90531-X (https://doi.
org/10.1016%2F0014-4827%2869%2990531-X).
55. Pearson, Peter L.; Bobrow, Martin; Vosa, Canio G. (April 4, 1970). "Technique for identifying
Y chromosomes in human interphase nuclei". Nature. 226 (5240): 78–80.
Bibcode:1970Natur.226...78P (https://ui.adsabs.harvard.edu/abs/1970Natur.226...78P).
doi:10.1038/226078a0 (https://doi.org/10.1038%2F226078a0). PMID 4190810 (https://pubm
ed.ncbi.nlm.nih.gov/4190810). S2CID 4013867 (https://api.semanticscholar.org/CorpusID:40
13867).
Knox, Richard (August 14, 1970). "Test may lead to choice in baby's sex" (https://pqasb.p
qarchiver.com/boston/access/1946618622.html?FMT=ABS&FMTS=ABS:AI). The
Boston Globe. p. 26.
56. Royce, Kenneth (June 1, 1970). The XYY Man. London: Hodder & Stoughton. ISBN 978-0-
340-10694-5.
Kneeland, Harold (December 8, 1970). "Books: Antiheroes and villains" (https://pqasb.p
qarchiver.com/washingtonpost_historical/access/158533992.html?FMT=ABS&FMTS=A
BS:AI). The Washington Post. p. B6. "The genetic fable is The XYY Man by Kenneth
Royce (David McKay, $4.95). It leans so lightly on the theory that an extra Y
chromosome produces a criminal that the reader can forget the biology and enjoy the
fast footwork. Royce has simply manufactured a super cat burglar who is euchered into
working for MI6. This tall (that chromosome), intelligent (that chromosome again),
functionally nonviolent (that chromosome still again) fellow plays the damndest game
with British internal security that ever filled a dossier..."
57. Fulton, Roger; Betancourt, John (1998). "Doomwatch". The Sci-Fi Channel encyclopedia of
TV science fiction. New York: Aspect. p. 170. ISBN 978-0-446-67478-2. By the Pricking of
My Thumbs ... written by Robin Chapman. Sixteen-year-old Stephen Franklin is expelled
from school because, his father says, he has an obscure genetic defect—an extra "Y"
chromosome.
58. Roush, Matt (November 17, 1993). "Critic's corner" (https://pqasb.pqarchiver.com/USAToday/
access/55220486.html?FMT=ABS&FMTS=ABS:FT). USA Today. p. 12D. One of TV's most
consistently rewarding series takes a grim and unforgettable detour into the bleak mindset of
a teen-age sociopathic murderer. Is society to blame, or as his lawyer argues, is he
genetically predisposed to violence, with an extra "Y" chromosome? … the boy's hopeless
future seems all too evident.
59. Hochman, David (May 7–13, 2007). "Horatio hunts a natural-born killer". TV Guide. 55 (19):
34–36. There's nothing funny about the season finale. That episode is about a serial killer
with "criminal" genes. "It's a real-life natural-born killer situation", executive producer Ann
Donahue says. "Usually girls have XX chromosomes and boys have XY, but this killer is
XYY, which means too much testosterone." Among other niceties, the killer who has ties to
Boston… brands his female victims with the letter Y.
60. Kovach, Bill (April 11, 1970). "Final approval of abortion bill voted in Albany; Rockefeller to
sign it over weekend despite appeal by Cooke for veto" (https://www.nytimes.com/1970/04/1
1/archives/final-approval-of-abortion-bill-voted-in-albany-rockefeller-to-sign.html). The New
York Times. p. 1.
Kihss, Peter (July 2, 1970). "Abortions begun in state under liberal new law; Scores get
abortions under new law" (https://select.nytimes.com/gst/abstract.html?res=FB0F1FFC3
85C1B7493C0A9178CD85F448785F9). The New York Times. p. 1.
61. Sullivan, Walter (December 29, 1970). "Growth to slow down, association head says" (http
s://www.nytimes.com/1970/12/29/archives/growth-to-slow-down-association-head-says.htm
l). The New York Times. p. 14.
Glass, Bentley (January 8, 1971). "Science: endless horizons or golden age?". Science.
171 (3966): 23–29. Bibcode:1971Sci...171...23G (https://ui.adsabs.harvard.edu/abs/1971
Sci...171...23G). doi:10.1126/science.171.3966.23 (https://doi.org/10.1126%2Fscience.1
71.3966.23). JSTOR 1731074 (https://www.jstor.org/stable/1731074). PMID 17737984 (h
ttps://pubmed.ncbi.nlm.nih.gov/17737984).
Glass, Bentley (April 9, 1971). "Reply to: Less than golden future". Science. 172 (3979):
111–112. doi:10.1126/science.172.3979.111-c (https://doi.org/10.1126%2Fscience.172.
3979.111-c). JSTOR 1730891 (https://www.jstor.org/stable/1730891). PMID 17735208 (h
ttps://pubmed.ncbi.nlm.nih.gov/17735208).
Glass, Bentley (July 9, 1971). "Reply to: What price the perfect baby?". Science. 173
(3992): 103–104. doi:10.1126/science.173.3992.103-c (https://doi.org/10.1126%2Fscien
ce.173.3992.103-c). JSTOR 1732191 (https://www.jstor.org/stable/1732191).
PMID 5104145 (https://pubmed.ncbi.nlm.nih.gov/5104145).
62. Otto, James Howard; Towle, Albert (1973). Modern biology (https://archive.org/details/moder
nbiology00otto/page/185). New York: Holt, Rinehart and Winston. p. 185 (https://archive.org/
details/modernbiology00otto/page/185). ISBN 978-0-03-091337-2. "Another abnormal
condition results when a normal X-bearing egg is fertilized by a YY sperm, formed by non-
disjunction during spermatogenesis. This produces an XYY male who is usually over six
feet in height and very aggressive."
63. Freedman, Alfred M.; Kaplan, Harold I.; Sadock, Benjamin J. (1972). Modern Synopsis of
Comprehensive Textbook of Psychiatry (1st ed.). Baltimore: Williams & Wilkins. p. 711.
OCLC 1232929 (https://www.worldcat.org/oclc/1232929). "Figure 43.2"
Sadock, Benjamin James; Sadock, Virginia Alcott (2007). Kaplan and Sadock's
Synopsis of Psychiatry : Behavioral Sciences/Clinical Psychiatry (10th ed.).
Philadelphia: Lippincott Williams & Wilkins. p. 154. ISBN 978-0-7817-7327-0. "A famous
case of an "XYY" insanity defense is illustrated in Figure 4.4–1. Figure 4.4–1 (https://boo
ks.google.com/books?id=voJTE9z1ZXEC&pg=PA154) Richard Speck. He was
convicted in 1966 of slaying eight nurses in Chicago by stabbing and strangulation. His
legal defense was based on his genetic makeup, which was "XYY". Individuals with
these genes have been reported to be tall, mentally retarded, have acne, and show
aggressive behavior... (Courtesy of Wide World Photos.)" {{cite book}}: External
link in |quote= (help)
64. Witkin, Herman A.; Mednick, Sarnoff A.; Schulsinger, Fini; Bakkestrøm, Eskild; Christiansen,
Karl O.; Goodenough, Donald R.; Hirschhorn, Kurt; Lundsteen, Claes; Owen, David R.;
Philip, John; Rubin, Donald B.; Stocking, Martha (August 13, 1976). "Criminality in XYY and
XXY men". Science. 193 (4253): 547–555. Bibcode:1976Sci...193..547W (https://ui.adsabs.
harvard.edu/abs/1976Sci...193..547W). doi:10.1126/science.959813 (https://doi.org/10.112
6%2Fscience.959813). JSTOR 1742747 (https://www.jstor.org/stable/1742747).
PMID 959813 (https://pubmed.ncbi.nlm.nih.gov/959813).
Knox, Richard (August 11, 1976). "Males with extra chromosomes not violence-prone,
Danish study shows" (https://pqasb.pqarchiver.com/boston/access/1976214812.html?F
MT=ABS&FMTS=ABS:AI). The Boston Globe. p. 5.
"XYY: No link to aggressive crime". Sci News. Vol. 110, no. 7. August 14, 1976. p. 103.
JSTOR 3961261 (https://www.jstor.org/stable/3961261).
"Medicine: Capsules" (http://www.time.com/time/magazine/article/0,9171,918265,00.htm
l). Time. Vol. 108, no. 9. August 30, 1976. p. 58.
Brody, Jane E. (September 12, 1976). "A chromosome link to crime is doubted; Study in
Denmark finds no data to back view that 'XYY' men are inclined to be violent" (https://sel
ect.nytimes.com/gst/abstract.html?res=FB0F12FE3F5E1A7493C0A81782D85F428785
F9). The New York Times. p. 18.
65. The five March of Dimes international conferences and four books also included reports on
the findings of longitudinal prospective studies in London, Ontario and Tokyo on the
development of children and with sex chromosome abnormalities identified in part by
newborn screening programs.
66. The last active longitudinal prospective study ended in 2000 with the end of the 36-year
Denver study following the death of pediatrician and geneticist Arthur Robinson.
Robinson, Arthur; Linden, Mary G.; Bender, Bruce G. (1998). "Prenatal diagnosis of sex
chromosome abnormalities". In Milunsky, Aubrey (ed.). Genetic disorders and the fetus :
diagnosis, prevention and treatment (4th ed.). Baltimore: Johns Hopkins University
Press. pp. 249–285. ISBN 978-0-8018-5801-7.
Bender, Bruce G.; Linden, Mary G.; Harmon, Robert J. (May–June 2001). "Life adaptation
in 35 adults with sex chromosome abnormalities" (https://doi.org/10.1097%2F00125817-
200105000-00007). Genet Med. 3 (3): 187–191. doi:10.1097/00125817-200105000-
00007 (https://doi.org/10.1097%2F00125817-200105000-00007). PMID 11388759 (http
s://pubmed.ncbi.nlm.nih.gov/11388759).
67. Rao, Ercole; Weiss, Birgit; Fukami, Maki; Rump, Andreas; Niesler, Beate; Mertz, Annelyse;
Muroya, Koji; Binder, Gerhard; Kirsch, Stefan; Winkelmann, Martina; Nordsiek, Gabriele;
Heinrich, Udo; Breuning, Martijn H.; Ranke, Michael B.; Rosenthal, André; Ogata, Tsutomu;
Rappold, Gudrun A. (May 1997). "Pseudoautosomal deletions encompassing a novel
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External links
Nielsen, Johannes (1998). XYY males. An orientation (https://web.archive.org/web/2010030
7091453/http://www.aaa.dk/TURNER/ENGELSK/XYY.HTM).

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