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- Down's syndrome (trisomy 21) Syndrome caused by TRISOMY of chromosome 21 and characterized by varying degrees of mental retardation and growth retardation and by a distinct facial appearance, which accounts for the syndrome's also being known in the past as mongolism. It is the commonest chromosomal abnormality in newborns. The trisomy 21 can be either complete, caused by a NONDISJUNCTION event at MEIOSIS, or incomplete, caused by the inheritance of a TRANSLOCATION involving part of chromosome 21. In 80% of cases of complete trisomies, the extra chromosome is maternal in origin. There is a significant association between the syndrome and maternal age: for a mother 20 years of age the risk is 1 in 2000 but by the age of 46 the risk rises to 1 in 25. However, around one- fifth of cases seem to be independent of maternal age. A less severe phenotype may be associated with MOSAICISM for trisomy 21.
Extraction Method: Medical Objects-
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Database: Medline abstracts
Publication Type: All
Score Calculation Method: Cosine Similarity Method
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Results computed on: 6/9/2006
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