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The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Trisomy 9; Trisomy 8 (Warkany syndrome 2) Of these, Trisomy 21 and Trisomy 18 are the most common. In rare cases, a fetus with Trisomy 13 can survive, giving rise to Patau syndrome. Autosomal trisomy can be associated with birth defects, intellectual disability and shortened life. Trisomy of sex chromosomes can also occur and include: [4]
This list is incomplete; you can help by adding missing items. (May 2016) ... Trisomy 13; Trisomy 18; Trisomy 21 (Down Syndrome) Turner syndrome (Monosomy X)
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. [1] [13]
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]
Trisomy 18 is a fatal chromosomal condition that can be detected during pregnancy.It's also at the center of a new legal case in Texas, where a mom of two, Kate Cox, is seeking an abortion after ...
A genetic disorder is a health problem caused by one or more abnormalities in the genome. ... An example of these disorders is Trisomy 21 ...
She and Doyle had genetic testing done, and were told that the fetus had tested positive for trisomy 21, a type of Down syndrome, a condition in which individuals have an extra copy of a chromosome.
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