Article
Down syndrome phenotypes: the consequences of chromosomal imbalance.
Proceedings of the National Academy of Sciences of the United States of America - 24 May 1994
Korenberg J R, Chen X N, Schipper R, Sun Z, Gonsky R, Gerwehr S, Carpenter N, Daumer C, Dignan P, Disteche C
Abstract excerpt
Down syndrome (DS) is a major cause of mental retardation and congenital heart disease. Besides a characteristic set of facial and physical features, DS is associated with congenital anomalies of the gastrointestinal tract, an increased risk of leukemia, immune system defects, and an Alzheimer-like dementia. Moreover, DS is a model for the study of human aneuploidy. Although usually caused by the presence of an...
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