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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 ...
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 extra chromosome content can arise through several different ways. The most common cause (about 92–95% of cases) is a complete extra copy of chromosome 21, resulting in trisomy 21. [92] [97] In 1–2.5% of cases, some of the cells in the body are normal and others have trisomy 21, known as mosaic Down syndrome.
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
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]
For example, Jiang et al. inserted a copy of the Xist gene into one copy of chromosome 21 in stem cells derived from an individual with trisomy 21 (Down syndrome). [50] The inserted Xist gene induces Barr body formation, triggers stable heterochromatin modifications, and silences most of the genes on the extra copy of chromosome 21.
Mitosis (/ m aɪ ˈ t oʊ s ɪ s /) is a part of the cell cycle in which replicated chromosomes are separated into two new nuclei. Cell division by mitosis is an equational division which gives rise to genetically identical cells in which the total number of chromosomes is maintained. [ 1 ]
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]