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

Journal Article · Sat Feb 01 00:00:00 EST 1992 · American Journal of Human Genetics; (United States)

OSTI ID:7176558

Korenburg, J R ^[1]; Bradley, C; Disteche, C M ^[2]

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1. University of California, Los Angeles (United States)
2. University of Washington, Seattle (United States)

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.

• OSTI ID: 7176558
• Journal Information: American Journal of Human Genetics; (United States), Vol. 50:2; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

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