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Title: Down syndrome: Molecular mapping of the congenital heart disease and duodenal stenosis

Down syndrome (DS) is a major cause of congenital heart and gut disease and mental retardation. DS individuals also have characteristic facies, hands, and dermatoglyphics, in addition to abnormalities of the immune system, and increased risk of leukemia, and an Alzheimer-like dementia. Although their molecular basis is unknown, recent work on patients with DS and partial duplications of chromosome 21 has suggested small chromosomal regions located in band q22 that are likely to contain the genes for some of these features. The authors now extend these analyses to define molecular markers for the congenital heart disease, the duodenal stenosis, and an 'overlap' region for the facial and some of the skeletal features. They report the clinical, cytogenetic, and molecular analysis of two patients. These studies provide the molecular basis for the construction of a DS phenotypic map and focus the search for genes responsible for the physical features, congenital heart disease, and duodenal stenosis of DS.
Authors:
 [1] ; ;  [2]
  1. (University of California, Los Angeles (United States))
  2. (University of Washington, Seattle (United States))
Publication Date:
OSTI Identifier:
7176558
Resource Type:
Journal Article
Resource Relation:
Journal Name: American Journal of Human Genetics; (United States); Journal Volume: 50:2
Country of Publication:
United States
Language:
English
Subject:
59 BASIC BIOLOGICAL SCIENCES; HEREDITARY DISEASES; ETIOLOGY; HUMAN CHROMOSOME 21; GENETIC MAPPING; BIOLOGICAL MARKERS; CARDIOVASCULAR DISEASES; CONGENITAL DISEASES; PATIENTS; SMALL INTESTINE; BODY; CHROMOSOMES; DIGESTIVE SYSTEM; DISEASES; GASTROINTESTINAL TRACT; HUMAN CHROMOSOMES; INTESTINES; MAPPING; ORGANS 550400* -- Genetics