Down's Syndrome
Down's syndrome is characterized by mental retardation, dysmorphic facial features, and other distinctive phenotypic traits. characterize the syndrome. Down's syndrome can be diagnosed prenatally using amniocentesis, percutaneous umbilical blood sampling (PUBS), chorionic villus sampling (CVS), and extraction of fetal cells from the maternal circulation. The cause of Down's syndrome is full trisomy 21 in 94% of patients. Mosaicism (2.4%) and translocations (3.3%) account for the rest. Approximately 75% of the unbalanced translocations are de novo, and approximately 25% result from familial translocation. There are no notable medical treatments for mental retardation associated with Down's syndrome
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