Fragile X syndrome: molecular analysis reveals a new mechanism of mutation in human genetic diseases.

doi:10.3109/07853899209166994

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Article

Fragile X syndrome: molecular analysis reveals a new mechanism of mutation in human genetic diseases.

Annals of medicine - 1 Dec 1992

Poustka A

Abstract excerpt

The fragile X syndrome belongs to the most common genetic diseases and has a prevalence of one in every 2000 children. The syndrome is named after the fragile site in q27.3 on the X chromosome. The molecular cloning of the DNA containing the fragile site has resulted in the identification of a he...

Topics

Chromosome Fragile Sites
Chromosome Fragility
Chromosome Mapping
Cloning, Molecular
Female
Fragile X Syndrome
Humans
Male
Mutation
Phenotype
X Chromosome

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