Down syndrome: toward a molecular definition of the phenotype.

doi:10.1002/ajmg.1320370719

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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 member...

Topics

Base Sequence
Blotting, Southern
Chromosome Banding
Chromosome Mapping
Chromosomes, Human, Pair 21
Down Syndrome
Humans
Karyotyping
Phenotype
Repetitive Sequences, Nucleic Acid

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