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Down syndrome. Down syndrome (United States) or Down's syndrome (United Kingdom and other English-speaking nations), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [ 3 ]
Karyotype of a human with Trisomy 21 (Down syndrome). Trisomies can occur with any chromosome, but often result in miscarriage rather than live birth.For example, Trisomy 16 is most common in human pregnancies, occurring in more than 1%, but the only surviving embryos are those having some normal cells in addition to the trisomic cells (mosaic trisomy 16). [3]
1 per 5,000 births [3] Trisomy 18, also known as Edwards syndrome, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18. [3] Many parts of the body are affected. [3] Babies are often born small and have heart defects. [3] Other features include a small head, small jaw, clenched fists with overlapping ...
The most common type of Down syndrome is trisomy 21, which accounts for 95% of all cases. Down syndrome is a condition in which a baby is born with an extra chromosome. The most common type of ...
Trisomy 18 typically results in life-threatening complications for a baby, but one little girl, Georgia, is proof of how one can live with it. ... It's the same condition at the heart of a ...
Genetics of Down syndrome. Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on chromosome 21, either in whole (trisomy 21) or part (such as due to translocations). The effects of the extra copy varies greatly from individual to individual, depending on the extent of the extra copy ...
Trisomy X, also known as triple X syndrome and characterized by the karyotype [note 1] 47,XXX, is a chromosome disorder in which a female has an extra copy of the X chromosome. It is relatively common and occurs in 1 in 1,000 females, but is rarely diagnosed; fewer than 10% of those with the condition know they have it.
Trisomy 9. Full trisomy 9 is a rare and fatal chromosomal disorder caused by having three copies (trisomy) of chromosome number 9. It can be a viable condition if the trisomic component affects only part of the cells of the body (mosaicism) or in cases of partial trisomy of the short arm (trisomy 9p) in which cells have a normal set of two ...