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Translocation Down syndrome can be de novo; that is, not inherited but occurring at the time of an individual's conception, or may be inherited from a parent with a balanced translocation. The balanced translocation figure shows a 14/21 translocation between the long arms of chromosomes 14 and 21, where the other chromosomes are not shown.
Down syndrome or Down's syndrome, [12] 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] It is usually associated with developmental delays, mild to moderate intellectual disability , and characteristic physical features.
Germline mutations can occur before fertilization and during various stages of zygote development. [3] When the mutation arises will determine the effect it has on offspring. If the mutation arises in either the sperm or the oocyte before development, then the mutation will be present in every cell in the individual's body. [ 4 ]
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Trisomy 21 – Down syndrome, an example of a polysomy at chromosome 21 Polysomy is a condition found in many species, including fungi, plants, insects, and mammals, in which an organism has at least one more chromosome than normal, i.e., there may be three or more copies of the chromosome rather than the expected two copies. [1]
Lily breaks the mold of some people's concept of individuals with Down syndrome. She holds a job and is an important member of her community. She is able to live on her own and do everything a regular member of society can do. By inviting viewers into the details of her daily life, she proves that she is no different from anyone else.
The exact characteristics of Down syndrome were not observed, so more genes involved for Down syndrome phenotypes have to be located elsewhere. Reeves et al., using 250 clones of chromosome-21 and specific gene markers, were able to map the gene in mutated bacteria. The testing had 99.7% coverage of the gene with 99.9995% accuracy due to ...
March 21 (3/21) is World Down Syndrome Day, chosen because people with Down Syndrome have three copies of the 21st chromosome instead of the usual two. "Gabe lives his life to the fullest," Nick ...