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Chromosome 21 from Human Genome Program Normal human Karyotype. 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 ...
The presence of an extra chromosome 21, which is found in Down syndrome, is called trisomy 21. Trisomy 18 and Trisomy 13, known as Edwards syndrome and Patau syndrome, respectively, are the two other autosomal trisomies recognized in live-born humans. Trisomy of the sex chromosomes is also possible, for example , , and . 4/5
Down syndrome (also known by the karyotype 47,XX,+21 for females and 47,XY,+21 for males) [99] is mostly caused by a failure of the 21st chromosome to separate during egg or sperm development, known as nondisjunction. [92] As a result, a sperm or egg cell is produced with an extra copy of chromosome 21; this cell thus has 24 chromosomes.
In humans, Down syndrome appears in children carrying in their cells one extra copy of chromosome 21, as a result of a defect in chromosome segregation during meiosis in one of the progenitors. This defect will generate a gamete (spermatozoide or oocyte) with an extra chromosome 21.
Note that chromosome 21 is present in 3 copies, while all other chromosomes show the normal diploid state with 2 copies. Most cases of trisomy of chromosome 21 are caused by a nondisjunction event during meiosis I (see text). Down syndrome, a trisomy of chromosome 21, is the most common anomaly of chromosome number in humans. [2]
Rather than having monosomy, or only one copy, the majority of aneuploid people have trisomy, or three copies of one chromosome. [citation needed] An example of trisomy in humans is Down syndrome, which is a developmental disorder caused by an extra copy of chromosome 21; the disorder is therefore also called "trisomy 21". [7]
A karyotype of somebody affected with Down syndrome, depicting the presence of a full additional copy of chromosome 21. The presence of this extra copy is also referred to as Trisomy 21. The following conditions are caused by changes in the structure or number of copies of chromosome 21: Cancers: Rearrangements (translocations) of genetic ...
This is an accepted version of this page This is the latest accepted revision, reviewed on 10 February 2025. Process in which chromosomes are replicated and separated into two new identical nuclei For the type of cell division in sexually reproducing organisms used to produce gametes, see Meiosis. For excessive constriction of the pupils, see Miosis. For the parasitic infestation, see Myiasis ...