 |
|
Down's Syndrome as a Model Disease
Charles H. Scoggin, MD;
David Patterson, PhD
Arch Intern Med. 1982;142(3):462-464.
Abstract
Aneuploid chromosomal disorders may offer insight into the pathogenesis of certain common diseases. The birth defects and mental retardation that characterize Down's syndrome are well recognized. In addition, the altered chromosomal content that occurs in the syndrome apparently affects the prevalence of a variety of disorders, such as malignancy, endocrine dysfunction, infection, atherosclerosis, and premature aging. Because the single distinguishing factor in Down's syndrome is the presence of an excess of a part of chromosome 21, the genetic information contained in this chromosomal segment seems to be responsible for the disease manifestations. Techniques of somatic cell genetics and molecular biology allow mapping of human genes and study of their expression. With such methods it should be possible to understand Down's syndrome and other aneuploid disorders and to apply these considerations to other areas of medicine.
(Arch Intern Med 1982;142:462-464)
Author Affiliations
From the Department of Medicine (Pulmonary Sciences), The Eleanor Roosevelt Institute for Cancer Research (Dr Scoggin); Florence Sabin Laboratories for Genetics and Developmental Medicine (Drs Scoggin and Patterson); and the Webb-Waring Lung Institute, University of Colorado Health Sciences Center (Dr Scoggin), Denver.
Footnotes
Accepted for publication April 8, 1981.
Reprint requests to 4200 E Ninth Ave, Box C272, Denver, CO 80262 (Dr Scoggin).
 CiteULike  Connotea  Delicious  Digg  Facebook  Reddit  Technorati  Twitter
What's this?
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
Use of a fluorescent-PCR reaction to detect genomic sequence copy number and transcriptional abundance.
Chiang et al.
Genome Res 1996;6:1013-1026.
ABSTRACT
Molecular Genetics of Down's Syndrome: Overexpression of Transfected Human Cu/Zn-Superoxide Dismutase Gene and the Consequent Physiological Changes
Groner et al.
Cold Spring Harb Symp Quant Biol 1986;51:381-393.
ABSTRACT
|
