Genotype prediction in the fragile X syndrome.

doi:10.1136/jmg.28.12.824

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Article

Genotype prediction in the fragile X syndrome.

Journal of medical genetics - 1 Dec 1991

Hirst M C, Nakahori Y, Knight S J, Schwartz C, Thibodeau S N, Roche A, Flint T J, Connor J M, Fryns J P, Davies K E

Abstract excerpt

Fragile X positive, mentally retarded males have been shown to have an insertion or amplification of DNA sequences at, or close to, the site of expression of the fragile site. We show here the application of the detection of such changes to the diagnosis of affected males and female carriers and...

Topics

Blotting, Southern
DNA
DNA Probes
Female
Fragile X Syndrome
Gene Amplification
Genetic Markers
Genotype
Humans
Male
Pedigree
Restriction Mapping

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