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-li...
Topics
- Blotting, Southern
- Cell Line
- Chromosome Mapping
- Chromosomes, Human, Pair 21
- Down Syndrome
- Humans
- In Situ Hybridization, Fluorescence
- Phenotype