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Down syndrome

Down syndrome or Down's syndrome, (also known as trisomy 21), is a chromosomal condition caused
by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the
British physician who described the syndrome in 1866. The condition was clinically described earlier in
the 19th century by Jean Etienne Dominique Esquirol in 1838 and Edouard Seguin in 1844.[1] Down
syndrome was identified as a chromosome 21 trisomy by Dr. Jérôme Lejeune in 1959. Down syndrome in
a fetus can be identified through chorionic villus sampling or amniocentesis during pregnancy, or in a baby
at birth.

Down syndrome is a chromosomal condition characterized by the presence of an extra copy of genetic
material on the 21st chromosome, either in whole (trisomy 21) or part (such as due to translocations). The
effects and extent of the extra copy vary greatly among people, depending on genetic history, and pure
chance. The incidence of Down syndrome is estimated at 1 per 733 births, although it is statistically more
common with older parents due to increased mutagenic exposures upon some older parents' reproductive
cells. Other factors may also play a role. Down syndrome occurs in all human populations, and analogous
conditions have been found in other species such as chimpanzees[2] and mice.

Often Down syndrome is associated with some impairment of cognitive ability and physical growth, and a
particular set of facial characteristics. Individuals with Down syndrome usually have low intelligence, such
as to constitute mild to moderate intellectual disability. A small number have a severe to high degree of
intellectual disability. The average IQ of children with Down syndrome is around 50, compared to normal
children with an IQ of 100.[3] Many children with Down syndrome who have received family support,
enrichment therapies and tutoring manage to graduate from high school and are able to do paid work,[4] and
some participate in post-secondary education as well.[5]

Individuals with Down syndrome may have some or all of the following physical characteristics:
microgenia (an abnormally small chin),[6] an unusually round face, macroglossia[7] (protruding or oversized
tongue), an almond shape to the eyes caused by an epicanthic fold of the eyelid, upslanting palpebral
fissures (the separation between the upper and lower eyelids), shorter limbs, a single transverse palmar
crease (a single instead of a double crease across one or both palms), poor muscle tone, and a larger than
normal space between the big and second toes. Health concerns for individuals with Down syndrome
include a higher risk for congenital heart defects, gastroesophageal reflux disease, recurrent ear infections
that may lead to hearing loss, obstructive sleep apnea, thyroid dysfunctions, and obesity.

Early childhood intervention, screening for common problems, medical treatment where indicated, a
conducive family environment, and vocational training can improve the overall development of children
with Down syndrome. Education and proper care will improve quality of life significantly, despite genetic
limitations.[8]

Klinefelter's syndrome

Not to be confused with XYY (2 Y's, XYY syndrome).


"XXY" redirects here. For the Lucía Puenzo film, see XXY (film).

Klinefelter's syndrome, 47, XXY, or XXY syndrome is a condition in which human males have an extra
X chromosome. While females have an XX chromosomal makeup, and males an XY, affected individuals
have at least two X chromosomes and at least one Y chromosome.[1] Because of the extra chromosome,
individuals with the condition are usually referred to as "XXY Males", or "47, XXY Males".[2]

This chromosome constitution (karyotype) exists in roughly between 1:500 to 1:1000 live male births[3][4]
but many of these people may not show symptoms. The physical traits of the syndrome become more
apparent after the onset of puberty, if at all. [5]
In humans, 47XXY is the most common sex chromosome aneuploidy in males[6] and the second most
common condition caused by the presence of extra chromosomes. Other mammals also have the XXY
syndrome, including mice.[7]

Principal effects include hypogonadism and reduced fertility. A variety of other physical and behavioural
differences and problems are common, though severity varies and many XXY boys have few detectable
symptoms. Not all XXY boys and men develop the symptoms of Klinefelter syndrome.

Turner syndrome

Turner syndrome or Ullrich-Turner syndrome (also known as "Gonadal dysgenesis"[1]:550), 45 XO,


encompasses several conditions in human females, of which monosomy X (absence of an entire sex
chromosome, the Barr body) is most common. It is a chromosomal abnormality in which all or part of one
of the sex chromosomes is absent (unaffected humans have 46 chromosomes, of which two are sex
chromosomes). Normal females have two X chromosomes, but in Turner syndrome, one of those sex
chromosomes is missing or has other abnormalities. In some cases, the chromosome is missing in some
cells but not others, a condition referred to as mosaicism[2] or "Turner mosaicism".

Occurring in 1 in 2000[3] – 1 in 5000 phenotypic females,[4] the syndrome manifests itself in a number of
ways. There are characteristic physical abnormalities, such as short stature, swelling, broad chest, low
hairline, low-set ears, and webbed necks.[5] Girls with Turner syndrome typically experience gonadal
dysfunction (non-working ovaries), which results in amenorrhea (absence of menstrual cycle) and sterility.
Concurrent health concerns are also frequently present, including congenital heart disease, hypothyroidism
(reduced hormone secretion by the thyroid), diabetes, vision problems, hearing concerns, and many
autoimmune diseases.[6] Finally, a specific pattern of cognitive deficits is often observed, with particular
difficulties in visuospatial, mathematical, and memory areas.[7]

Turner's syndrome is named after Henry H. Turner.