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 the identification of normal transmitting males. One fragile X negative male with the clinical features of the...

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