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Down syndrome or Down's syndrome, 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] [12] There are three types of Down syndrome, the ...
Genetics of Down syndrome. 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, depending on the extent of the extra copy ...
Specialty. Endocrinology. Chédiak–Higashi syndrome [1] ( CHS) is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, [2] which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic infections, albinism, and peripheral neuropathy .
Cri du chat syndrome is due to a partial deletion of the short arm of chromosome number 5, also called "5p monosomy " or "partial monosomy." Approximately 90% of cases result from a sporadic, or randomly occurring, de novo deletion. The remaining 10–15% are due to unequal segregation of a parental balanced translocation where the 5p monosomy ...
The average IQ of a young adult with Down syndrome is 50, equivalent to the mental age of an 8- or 9-year-old child, but this number varies widely. At the same time, they enjoy a rich social and emotional awareness. Down syndrome is the most common chromosome abnormality in humans, occurring in about one per 1000 babies born each year.
Brunner syndrome is a rare genetic disorder associated with a mutation in the MAOA gene. It is characterized by lower than average IQ (typically about 85), problematic impulsive behavior (such as pyromania, hypersexuality and violence), sleep disorders and mood swings. [1] [2] It was identified in fourteen males from one family in 1993.
Bloom syndrome (often abbreviated as BS in literature) [1] is a rare autosomal recessive genetic disorder characterized by short stature, predisposition to the development of cancer, and genomic instability. BS is caused by mutations in the BLM gene which is a member of the RecQ DNA helicase family. Mutations in genes encoding other members of ...
Down syndrome research. Research of Down syndrome-related genes is based on studying the genes located on chromosome 21. In general, this leads to an overexpression of the genes. [1] [2] Understanding the genes involved may help to target medical treatment to individuals with Down syndrome. It is estimated that chromosome 21 contains 200 to 250 ...