Trisomy X

Trisomy X
Trisomy X, also known as triple X syndrome and

Trisomy X
characterized by the karyotype[note 1] 47,XXX, is a
chromosome disorder in which a female has an extra Other 47,XXX, triple X syndrome, triplo-
copy of the X chromosome. It is relatively common names X syndrome, XXX syndrome
and occurs in 1 in 1,000 women but it is rarely
diagnosed; fewer than 10% of those with the condition
know they have it.
Those who have symptoms can have learning

disabilities, mild dysmorphic features such as
hypertelorism (wide-spaced eyes) and clinodactyly Three individuals with trisomy X
(incurved little fingers), early menopause, and
Specialty Medical genetics
increased height. The average intelligence quotient (IQ)
in trisomy X is 85–90. As the symptoms of trisomy X Symptoms Tall stature, skeletal anomalies,
are often not serious enough to prompt a karyotype test, minor neurocognitive and
many cases of trisomy X are diagnosed before birth via behavioural difficulties
prenatal screening tests such as amniocentesis. Usual Conception
Research on girls and women with the disorder finds
onset
that cases which were diagnosed postnatally, having
been referred for testing because of obvious symptoms, Duration Lifelong
are generally more severe than those diagnosed Causes Nondisjunction
prenatally. Most women with trisomy X live normal
Diagnostic Karyotype
lives, although their socioeconomic status is reduced
compared to the general population. method
Frequency approximately 1 in 1,000 (female)
Trisomy X occurs via a process called nondisjunction,
in which normal cell division is interrupted and produces gametes with too many or too few chromosomes.
Nondisjunction is a random occurrence, and most girls and women with trisomy X have no family histories
of chromosome aneuploidy.[note 2] Advanced maternal age is mildly associated with trisomy X. Women
with trisomy X can have children of their own, who in most cases do not have an increased risk of
chromosome disorders; women with mosaic trisomy X, who have a mix of 46,XX (the typical female
karyotype) and 47,XXX cells, may have an increased risk of chromosomally abnormal children.
First reported in 1959 by the geneticist Patricia Jacobs, the early understanding of trisomy X was that of a
debilitating disability observed in institutionalized women. Beginning in the 1960s, studies of people with
sex chromosome aneuploidies from birth to adulthood found that they are often only mildly affected, fitting
in with the general population, and that many never needed the attention of clinicians because of the
condition.
Contents
Presentation
Physiological
Neurodevelopmental
Psychological
Mosaic forms
46,XX/47,XXX
45,X0/47,XXX
47,XXX/48,XXXX
Causes
Diagnosis and differential diagnosis
Prognosis
Epidemiology
History
Society and culture
In other animals
Notes
References
External links
Presentation
Trisomy X has variable effects, ranging from no symptoms at all to significant disability.[3] Severity varies
between people diagnosed prenatally (before birth) and postnatally (after birth), and postnatal cases are
more severe on average.[4] Symptoms associated with trisomy X include tall stature, mild developmental
delay, subtle physical and skeletal anomalies, increased rates of mental health concerns, and earlier age of
menopause.[3][5]
Physiological
The physical and physiological impacts of trisomy X tend to be subtle.[3] Tall stature is one of the major
physical associations of trisomy X. Prior to age four, most girls with trisomy X are average height; growth
picks up after this age, and is particularly rapid between the ages of four and eight. Of girls with trisomy X
aged six to thirteen, 40% are above the 90th percentile in height.[5] The average adult height in trisomy X
has been estimated as 172 cm (5 ft 71 ⁄2 in) and head circumference as 20th percentile.[6][note 3] The added
height in trisomy X is primarily in the limbs, with long legs and a shorter sitting height.[3] Though head
circumference is generally below the 50th percentile,[5] microcephaly, a head circumference below the 5th
percentile, is rare.[3]
Minor skeletal and craniofacial anomalies are associated with trisomy X. Subtle dysmorphisms seen in
some females with trisomy X include hypertelorism (wide-spaced eyes), epicanthic folds (an additional fold
of skin in the corners of the eyes), and upslanting palpebral fissures (the opening between the eyelids).
These differences are usually minor and do not impact the daily lives of girls and women with the
condition.[3] Other skeletal anomalies associated with trisomy X include clinodactyly (incurved little
fingers), radioulnar synostosis (the fusion of the long bones in the forearm),[9] flat feet, and hyper-
extensible joints.[10] These findings are not unique to trisomy X, but rather are seen in sex chromosome
aneuploidy disorders as a whole.[11]
Severe internal disease is rare in trisomy X. Genitourinary conditions are more common than in the general
population, particularly kidney and ovary malformations.[3] One study found that the autoimmune disorders
lupus and Sjögren’s syndrome are more common in trisomy X than in the general population.[12]
Conditions such as sleep apnea, asthma, scoliosis, and hip dysplasia have also been linked to sex
chromosome aneuploidies as a whole, including trisomy X.[11] Although heart defects are common in
pentasomy X,[13] they are no more frequent in trisomy X than the general population.[5]
Puberty starts around the expected age and progresses as normal.[14] Fertility is normal when not
complicated by early menopause;[3] a large population study found women with 47,XXX karyotypes to
average 1.9 lifetime pregnancies, compared to 2.3 for women with "normal" 46,XX karyotypes, and to be
no more likely to miscarry.[15] Premature ovarian failure (POF), or early menopause, is a known
complication of trisomy X. Premature ovarian failure is defined as menopause before the age of 40; in the
general population, 1 in 100 women experience menopause before this age, 1 in 1,000 before age 30, and 1
in 10,000 before age 20. Amongst women with POF, 3% have trisomy X, compared to 1 in 1,000 in the
general population.[16] The average age of menopause for women with trisomy X is 45 years, compared to
50 years for women with 46,XX karyotypes.[15] POF is more common in women with trisomy X who also
have autoimmune disorders.[3]
Neurodevelopmental
General cognitive functioning is reduced in trisomy X, with

an average intelligence quotient of 85–90.[3] Performance IQ
tends to be higher than verbal IQ.[17] Though intellectual
disability is rare, it is more prevalent than in the general
population, occurring in about 5–10% of females with
trisomy X[3] compared to approximately 1% of the broader
population.[18] While the average is depressed, the effect of IQ curve for trisomy X compared to controls
trisomy X varies substantially, and some women are highly
intelligent.[19]
Infant milestones are normal to slightly delayed. A patient support organization reports crawling around the
age of ten months and walking around sixteen to eighteen months, with first words acquired shortly after
one year of age and fluent speech around age two.[14] Speech therapy is needed in 40%–90% of girls with
trisomy X at some point in their lives,[17] compared to around 3–8% of children in the general
population.[20][21] Expressive language skills tend to be more affected than receptive skills.[22]
Neuroimaging in trisomy X demonstrates decreased whole brain volumes, correlated with overall
intellectual functioning. Amygdala volume may be smaller than expected after controlling for whole brain
size. White matter abnormalities have been reported, although their significance is unknown. These
findings are common to X-chromosome polysomy syndromes, and is seen in males with Klinefelter
syndrome.[3][17] Epilepsy or electroencephalogram abnormalities may be more common in those with
trisomy X, particularly those who are also intellectually disabled.[3][23] Epilepsy in sex chromosome
aneuploidies as a whole is mild, amenable to treatment, and often attenuates or disappears with time.
Tremor is reported in approximately a quarter of women with trisomy X and responds to the same
treatments as in the general population.[23]
Autism spectrum disorders are more common in trisomy X, occurring in approximately 15% of girls with
trisomy X[22] compared to less than 1% of girls in the general population.[24] Though much of the research
is in children, research in adult women with trisomy X suggests higher rates of autistic symptomatology
than the general population.[25] Executive dysfunction, where people have difficulty regulating their actions
and emotions, is more prevalent amongst those with trisomy X than the general population.[17][22]
Psychological
The psychosocial adaptation of girls and women with trisomy X is dependent on environmental factors.
Girls growing up in stable environments with healthy home lives tend to have relatively high adaptive and
social functioning, while significant behavioural and psychological issues are predominantly seen in those
from troubled social environments.[5] Though girls with trisomy X usually have good relationships with
peers, they trend towards immaturity;[17] some behavioural issues in children with trisomy X are thought to
be a consequence of the disconnect between apparent age, as understood via increased height, and
cognitive and emotional maturity encouraging hard-to-reach expectations.[5] Girls whose motor and
language skills are more severely affected by trisomy X often experience low confidence and self-
esteem.[26] These traits vary in severity; though some women with trisomy X are significantly impaired,
many are within the normal range of variance, and some are high-functioning and high-achieving.[19]
Some mental health issues are more frequent in women with trisomy X. Dysthymia and cyclothymia,
milder forms of depression and bipolar disorder respectively, are more common than in the general
population.[3][5] Women with trisomy X average higher schizotypy, reporting higher levels of introversion,
magical thinking, and impulsivity.[17] Sex chromosome aneuploidies are associated with psychosis, and
schizophrenic women are more likely to have trisomy X than the general female population.[27] The
prevalence of trisomy X in women with adult-onset schizophrenia is estimated to be around 1 in 400,
compared to 1 in 1,000 in women as a whole; the prevalence in childhood onset schizophrenia is unclear,
but may be as high as 1 in 40.[28] Approximately one-fifth of women with trisomy X report clinically
significant levels of anxiety.[22] Women with trisomy X are often "late bloomers", experiencing high rates
of psychological distress into early adulthood, but by their mid-thirties having stronger interpersonal bonds
and healthy relationships.[17] The study of mental health in trisomy X is complicated by the fact that girls
and women who were diagnosed before birth seem to be more mildly affected than those diagnosed after.
For instance, psychogenic stomach pains are reported in a disproportionate number of postnatally
diagnosed patients, but fewer prenatally diagnosed ones.[14]
Mosaic forms
The most common karyotype in trisomy X is 47,XXX, where all cells have an additional copy of the X
chromosome. Mosaicism, where both 47,XXX and other cell lines are present, occurs in approximately
10% of cases. Mosaic trisomy X has different outcomes to the non-mosaic condition. Common mosaic
forms observed include 46,XX/47,XXX, 45,X0/47,XXX (with a Turner syndrome cell line), and
47,XXX/48,XXXX (with a tetrasomy X cell line). Complex mosaicism, with cell lines such as
45,X0/46,XX/47,XXX, can also be seen.[3]
46,XX/47,XXX
The simplest form of mosaic trisomy X, with a 46,XX/47,XXX karyotype, is milder compared to full
trisomy X. Cognitive development is more typical, with improved long-term life outcomes. Although
generally milder, 46,XX/47,XXX mosaicism is associated with a higher risk of chromosome anomalies in
offspring than full trisomy X.[26] The increased risk of abnormal offspring in mosaicism has been
hypothesized to be a consequence of oocyte abnormality in 46,XX/47,XXX women not seen in full
47,XXX. Some writers have recommended women with 46,XX/47,XXX karyotypes undergo screening
for chromosomal disorders during pregnancy.[3][29]
45,X0/47,XXX
Between 3% and 15% of females with Turner syndrome, defined

by a karyotype with a single copy of the X chromosome, have a
47,XXX cell line.[3][30] Mosaic karyotypes with both 45,X0 and
47,XXX cells are considered Turner syndrome rather than trisomy
X, but the presence of 47,XXX cells influences the disorder. Non-
mosaic Turner syndrome is characterized by primary amenorrhea
and failure to begin or complete puberty, while 80–90% of women
A nine-year-old girl with a
with 45,X0/47,XXX mosaicism begin puberty naturally and
45,X0/47,XXX karyotype
approximately 60–80% have spontaneous menses.[31] Around two-
thirds of 45,X0/47,XXX mosaics have clinically significant short
stature, compared with virtually all women with non-mosaic Turner syndrome.[31] Although women with
trisomy X have lower IQs than the general population and women with Turner syndrome do not,
intellectual disability does not appear to be more common in the mosaicism than for non-mosaic
Turner's.[32] Women with mosaic Turner syndrome tend to have similar dysmorphic features to those with
non-mosaic Turner's syndrome, but less marked, and some have none of the traditional Turner's
stigmata.[33]
Turner syndrome is characteristically associated with sterility, and only 2–7% of women with Turner's,
including mosaic cases, are capable of pregnancy. In contrast, Turner's women with 47,XXX cell lines
often complete puberty and are typically fertile.[34] Women with the mosaicism experience premature
ovarian failure; the average age of menopause in these women is around 30, with the onset of likely
perimenopausal irregular menses occurring around age 20.[31]
47,XXX/48,XXXX
Mosaicism with a tetrasomy X cell line generally appears more severe than typical trisomy X.[26] Like
trisomy X, tetrasomy X has a variable phenotype muddled by underdiagnosis. The tetrasomy is generally
more severe than the trisomy; intellectual disability is characteristic, dysmorphic features more visible, and
puberty often altered.[3][26]
Causes
Trisomy X, like other
aneuploidy disorders, is
caused by a process called
nondisjunction.
Nondisjunction occurs when
homologous chromosomes or
sister chromatids fail to
separate properly during
meiosis, the process that
produces gametes (eggs or
sperm), and result in gametes
with too many or too few
chromosomes.[37]
Nondisjunction can occur
during gametogenesis, where Maternal (top) and paternal (bottom) nondisjunction leading to trisomy X[35][36]
the trisomy is present from conception, or zygote development, where it occurs after conception.[3] When
nondisjunction occurs after conception, the resulting karyotype is generally mosaic, with both 47,XXX and
other cell lines.[38]
Most cases of trisomy X occur through maternal nondisjunction, with around 90% of cases traced to errors
in oogenesis.[26] The vast majority of cases of trisomy X occur randomly; they have nothing to do with the
chromosomes of the parents and little chance of recurring in the family.[14] Nondisjunction is related to
advanced maternal age, and trisomy X specifically appears to have a small but significant maternal age
effect.[3] In a cohort of women with trisomy X born in the 1960s, the average maternal age was 33.[5] The
risk of women with full trisomy X having chromosomally abnormal children is low, likely below 1%.
Recurrence may occur if the mother has mosaicism for trisomy X, particularly in ovarian cells, but this
makes up a small fraction of cases.[14]
Diagnosis and differential diagnosis

Chromosome aneuploidies such as trisomy X are diagnosed via karyotype,[39] the process in which
chromosomes are tested from blood, bone marrow, amniotic fluid, or placental cells.[40] As trisomy X is
generally mild or asymptomatic, most cases are never diagnosed. Around 10% of cases of trisomy X are
diagnosed in the person's lifetime; many are ascertained coincidentally during prenatal testing via
amniocentesis or chorionic villi sampling, which is routinely performed for advanced maternal age.[3]
Postnatal testing is typically prompted by tall stature,[41] hypotonia, developmental disability or
neurodivergence, mild dysmorphic features such as hypertelorism or clinodactyly, and premature ovarian
failure.[3]
Tetrasomy X, characterized by four copies of the X chromosome,

has some signs in common with more severe cases of trisomy X.
Intellectual disability, generally mild, is more frequently seen in the
tetrasomy than the trisomy. There is more of a tendency towards
noticeable dysmorphic features such as hypertelorism, clinodactyly,
and epicanthic folds. Unlike trisomy X, approximately half of
women with tetrasomy X have no or incomplete pubertal
development. Although in most cases tetrasomy X is significantly
more severe than trisomy X, some cases of tetrasomy X are mild,
Karyotype of trisomy X
and some cases of trisomy X severe. Like trisomy X, the full
phenotypic range of tetrasomy X is unknown due to
underdiagnosis. [9][42] Pentasomy X, with five X chromosomes, may rarely be a differential diagnosis for
trisomy X. The phenotype of pentasomy X is more severe than the trisomy or tetrasomy, with significant
intellectual disability, heart defects, microcephaly, and short stature.[9]
Due to overlapping dysmorphic features, such as epicanthic folds and upslanting palpebral fissures, some
cases of trisomy X may be ascertained due to suspicion of Down syndrome.[3] When the primary symptom
is tall stature, trisomy X may be considered alongside other conditions depending on the rest of the
phenotype. Marfan syndrome may be considered due to the disproportion between limb and torso length
observed in both syndromes, as well as both experiencing joint issues. Beckwith-Wiedemann syndrome,
another disproportionate tall stature syndrome, can cause developmental disability similar to that seen in
some cases of trisomy X.[41]
As karyotypic diagnosis is conclusive, differential diagnosis can be abandoned after karyotype in most
cases of trisomy X. However, due to the relatively high prevalence of trisomy X, other congenital disorders
may occur alongside a 47,XXX karyotype. Differential diagnosis remains indicated when the phenotype is
particularly severe for what a 47,XXX karyotype alone explains, such as severe intellectual disability or
significant malformation.[3]
Prognosis
The prognosis of trisomy X is broadly good, with adult independence
"My doctor told us that if
most often achieved, if delayed. Most adults achieve normal life
our unborn daughter had to
outcomes, pursuing education, employment, or homemaking.[43] have a genetic issue,
Childhood and adolescence, particularly in compulsory education, tends Trisomy X is the one to
to be more difficult for those with trisomy X than adult life. Parents have, so to speak. He said
report their daughters' struggling both academically and socially at that many girls with this
school,[44] particularly during secondary education,[43] while adults condition are completely
report better adaptation after leaving education and entering the normal, and that it is not
workforce.[5] Of the women in the cohort studies followed to early physically noticeable. The
adulthood, 7 of 37 dropped out of high school, while three attended issues that we could have
university.[5] Compared to age-matched women in the general might be with speech and
population, women with trisomy X are 68% as likely to live with a motor delays, or learning
partner, 64% as likely to have children, 36% as likely to hold higher disabilities. [...] The doctor
education qualifications, and almost twice as likely to be retired from did have us speak with a
the workforce.[45] genetic counselor, but no
one encouraged us to
Physical health is generally good and many women with trisomy X live terminate and we did not
into old age.[14] Little data exists on aging in trisomy X.[5] Data from consider it."
the Danish Cytogenetic Central Register, which covers 13% of women
with trisomy X in Denmark,[46] suggests a life expectancy of 71 for
women with full trisomy X and 78 for mosaics, compared to 84 for Parent of a daughter with
controls.[47] The limited sample, composed only of women with trisomy X[43]
trisomy X who have come to medical attention, has led to speculation
this number is an underestimate.[45]
Women with trisomy X who were diagnosed prenatally have better outcomes as a group than those
diagnosed postnatally, and 46,XX/47,XXX mosaics better than those with full trisomy X.[3] Some of the
improved outcome in prenatal diagnosis appears to be a function of higher socioeconomic status amongst
parents.[5]
Epidemiology
Trisomy X is a relatively common genetic disorder, occurring in around 1 in 1,000 female births. Despite
this prevalence, only around 10% of cases are diagnosed during their lifetime.[3] Large cytogenetic studies
in Denmark find a diagnosed prevalence of 6 in 100,000 females, around 7% of the actual number of girls
and women with trisomy X expected to exist in the general population.[46] Diagnosis in the United
Kingdom is particularly low, with an estimated 2% of cases medically recognized.[45] Amongst the
244,000 women in the UK Biobank research sample, 110 were found to have 47,XXX karyotypes,
corresponding to approximately half the number expected in the population. The fact this number is still
reduced compared to the broader population is thought to be an effect of UK Biobank participants being
less likely to be of low IQ and low socioeconomic status than the general population, both of which are
more frequent in trisomy X.[15]
Trisomy X only occurs in females, as the Y chromosome is in most cases necessary for male sexual
development.[14][note 4] In addition to its high base rate, trisomy X is more common in some clinical
subpopulations. The karyotype occurs in an estimated 3% of women with early menopause,[16] 1 in 350
with Sjögren syndrome, and 1 in 400 with systemic lupus erythematosus.[12]
Rate and age of diagnosis
Expected and observed number of Violin plots of age at diagnosis for

people diagnosed with trisomy X and Klinefelter syndrome, trisomy X, and
Turner syndrome in Denmark XYY syndrome
History
The first known case of trisomy X, in a 176 cm (5 ft 91 ⁄2 in) woman who experienced premature ovarian
failure at the age of 19, was diagnosed in 1959 by a team led by Patricia Jacobs.[5][51] The late 1950s and
early 1960s were a period of frequent ascertainment of previously unknown sex chromosome aneuploidies,
with the 47,XXX karyotype discovered alongside 45,X0 and 47,XXY the same year.[5][52][53] Early
studies on sex chromosome aneuploidy screened patients residing in institutions, depicting the karyotypes
as incapacitating; even at the time, this research was criticized for giving an inaccurate portrait of sex
chromosome aneuploidy.[54] Early reports of women with trisomy X have since been criticized for a
dehumanizing ableist perspective, showing nude photographs of institutionalized women described as
"mental deficiency patients".[55]
In response to the biased early studies, a newborn screening program for sex chromosome aneuploidy
disorders was implemented in the 1960s.[56] Almost 200,000 neonates were screened in Aarhus, Toronto,
New Haven, Denver, Edinburgh, and Winnipeg; those found to have sex chromosome aneuploidies were
followed up for 20 years for most of the cohorts, and longer for the Edinburgh and Denver cohorts.[5] The
children with trisomy X and Klinefelter's had their karyotypes disclosed to their parents, but due to the
then-present perception that XYY syndrome was associated with violent criminality, those diagnoses were
hidden from the family.[56]
These studies dispelled the idea that sex chromosome aneuploidies were "tantamount to a life of serious
handicaps" and revealed their high prevalence in the population.[57] They provided extensive information
on the outcomes of trisomy X and other sex chromosome aneuploidies, forming much of the medical
literature on the topic to this day. However, the small sample sizes of the long-term follow-ups in particular
stymies extrapolation; by 1999, only 16 women in Edinburgh were still being followed.[14] In 2007, Nicole
Tartaglia founded the eXtraordinarY Kids Clinic in Denver to study children with sex chromosome
aneuploidies; around one-fifth of patients at the clinic had trisomy X as of 2015.[11] In 2020, she introduced
the eXtraordinarY Babies Study, a planned cohort study on people prenatally diagnosed with sex
chromosome aneuploidies.[58]
The first description of trisomy X used the term 'superfemale' to describe the karyotype by analogy to
Drosophila flies, a term that was immediately disputed. Curt Stern proposed the use of 'metafemale', which
Jacobs criticized as both medically inaccurate and an "illegitimate product of a Graeco-Roman alliance".
Bernard Lennon, opposing the use of 'superfemale' as misleading and possessed of an inappropriate
"emotional element", suggested 'XXX syndrome'.[59][60] For some years, the disorder was predominantly
known as 'triple X syndrome' or 'triple X', though the latter is now discouraged.[14]
Society and culture

Awareness and diagnosis of sex chromosome aneuploidies is increasing.[61] In the late 2010s, several state
governments across the United States declared May to be National X & Y Chromosome Variation
Awareness Month.[62]
Descriptions of trisomy X overwhelmingly consider the karyotype from a medical perspective, rather than a
sociological or educational one.[44] One topic in the sociological discussion of trisomy X and other sex
chromosome aneuploidies is disability-selective abortion. Fetuses with sex chromosome aneuploidies are
more likely to be aborted, though fetuses with trisomy X are less likely than for such conditions as a whole.
A literature review of 19 studies found that nearly one-third of pregnancies with a child with trisomy X
were aborted; it also found that parents who were counselled by a genetic counseller with expertise in sex
chromosome aneuploidies, rather than an obstetrician or gynecologist, were less likely to abort.[63]
Abortion rates in sex chromosome aneuploidies have decreased over time with improved
counselling.[64][65]
In other animals
Trisomy X has been observed in other species that use the XY sex-determination system. Six cases of
trisomy X have been recorded in dogs, for which the karyotype is 79,XXX compared to 78,XX for an
euploid female dog.[66] Unlike in humans, trisomy X in dogs is strongly linked to infertility, either primary
anestrus or infertility with an otherwise normal estrous cycle. Canine trisomy X is thought to be
underascertained, as most pet dogs are desexed and so underlying infertility will not be discovered.[67]
Three of the six known cases of canine trisomy X demonstrated behavioural issues such as fearfulness,
inciting speculation about a link between the karyotype and psychological concerns as seen in humans with
the condition. An additional dog with normal fertility and no reported behavioural issues was found to have
a mosaic 78,XX/79,XXX karyotype. The canine X chromosome has a particularly large pseudoautosomal
region, and dogs accordingly have a lower rate of monosomy X than observed in other species; however, a
large pseudoautosomal region is not considered a contraindication for trisomy X, and canine trisomy X may
have a comparable prevalence to the human form.[66]
Trisomy X is also observed in cattle, where it corresponds to a 61,XXX karyotype. A survey of 71 heifers
who failed to become pregnant after two breeding seasons found two cases of trisomy X.[68] As of 2021 a
total of eight heifers with Trisomy X have been identified, seven of them were infertile. The condition also
affect the river buffalo where the three known cases were sterile.[69]
Notes
1. 'Karyotype' as a term has multiple meanings, all of which are used here. It may refer to a
person's chromosome complement, to the test used to discern said chromosome
complement, or to an image of chromosomes ascertained via such a test.[1]
2. Aneuploidy is the presence of too many or too few chromosomes in a cell.[2]
3. As comparison, the average adult height for women in the Anglosphere is around 162 cm
(5 ft 4 in).[7][8]
4. Male phenotypes, innate or induced, with forms of X chromosome polysomy that are usually
phenotypically female do occur. For trisomy X, a trans man and several men with sex
reversal have been recorded.[48][49][50]
References
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Testing" (https://www.aafp.org/afp/2020/0415/p481.html). Am Fam Physician. 101 (8): 481–
488. PMID 32293844 (https://pubmed.ncbi.nlm.nih.gov/32293844). Retrieved 21 August
2021.
3. Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L (11 May 2010). "A review of
trisomy X (47,XXX)" (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2883963). Orphanet
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2016). "Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus
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Journal of Medical Genetics Part A. 170 (11): 2870–2881. doi:10.1002/ajmg.a.37688 (https://
doi.org/10.1002%2Fajmg.a.37688). PMC 6501572 (https://www.ncbi.nlm.nih.gov/pmc/article
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7225). PMID 19568271 (https://pubmed.ncbi.nlm.nih.gov/19568271).
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Abnormality Syndromes Identifiable on Routine Karyotype". Smith's Recognizable Patterns
of Human Malformation (7 ed.). Amsterdam: Elsevier. p. 74. ISBN 978-0323638821.
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External links
NLM (2008). Triple X syndrome (http://ghr.nlm.nih.gov/condition=triplexsyndrome) Genetics
Home Reference
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Trisomy X

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Trisomy X

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Trisomy X

Trisomy X, also known as triple X syndrome and

Those who have symptoms can have learning

General cognitive functioning is reduced in trisomy X, with

Between 3% and 15% of females with Turner syndrome, defined

Diagnosis and differential diagnosis

Tetrasomy X, characterized by four copies of the X chromosome,

Rate and age of diagnosis

Expected and observed number of Violin plots of age at diagnosis for

Society and culture

Retrieved from "https://en.wikipedia.org/w/index.php?title=Trisomy_X&oldid=1096809862"

This page was last edited on 6 July 2022, at 19:34 (UTC).

Text is available under the Creative Commons Attribution-ShareAlike License 3.0;

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