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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 Martin-Bell syndrome also possesses an inserted/amplified DNA sequence. The implications of these results for screening for the fragile X syndrome are discussed.

Original publication

DOI

10.1136/jmg.28.12.824

Type

Journal article

Journal

J Med Genet

Publication Date

12/1991

Volume

28

Pages

824 - 829

Keywords

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