Article
Down syndrome: toward a molecular definition of the phenotype.
American journal of medical genetics. Supplement - 1 Jan 1990
Korenberg J R, Kawashima H, Pulst S M, Allen L, Magenis E, Epstein C J
Abstract excerpt
Down syndrome (DS) is a major cause of mental retardation and heart disease. Although it is usually caused by the presence of an extra chromosome 21, a subset of the diagnostic features may be caused by the presence of only band q22. Molecular and cytogenetic analysis of a family with 4 DS members has significantly narrowed the chromosomal region responsible for the DS phenotype: congenital heart disease, facial...
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