Article
Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis.
American journal of human genetics - 1 Feb 1992
Korenberg J R, Bradley C, Disteche C M
Abstract excerpt
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, an 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...
Topics
- Blotting, Southern
- Chromosome Banding
- DNA
- Down Syndrome
- Duodenal Obstruction
- Female
- Heart Defects, Congenital
- Humans
- Infant, Newborn
- Karyotyping
- Male
- Phenotype