Mosaicism in fragile X affected males.

doi:10.1002/ajmg.1320510444

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Article

Mosaicism in fragile X affected males.

American journal of medical genetics - 15 Jul 1994

Nolin S L, Glicksman A, Houck G E, Brown W T, Dobkin C S

Abstract excerpt

Fragile X affected males have an expansion of a CGG repeat and a hypermethylated CpG island 5' to the FMR-1 gene. Mosaic males with both a premutation and full mutation have been noted among the affected individuals. Such mosaic males are most easily identified by the presence of a methylated res...

Topics

Blotting, Southern
DNA
DNA Probes
Deoxyribonuclease EcoRI
Deoxyribonucleases, Type II Site-Specific
Dinucleoside Phosphates
Family Health
Fragile X Syndrome
Gene Dosage
Humans
Male
Methylation
Mosaicism
Mutation
Polymerase Chain Reaction
Repetitive Sequences, Nucleic Acid

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