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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.
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 ...
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]
Duplication creates genetic redundancy, where the second copy of the gene is often free from selective pressure—that is, mutations of it have no deleterious effects to its host organism. If one copy of a gene experiences a mutation that affects its original function, the second copy can serve as a 'spare part' and continue to function correctly.
Trisomy 21 is a form of Down syndrome that occurs when there is an extra copy of chromosome 21. The result is a genetic condition in which a person has 47 chromosomes instead of the usual 46. During egg or sperm development the 21st chromosome does not separate during either the egg or sperm development. The result is a cell that has 24 ...
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.