A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male

Segregation of the fragile X mutation fr

Segregation of the fragile X mutation from a male with a full mutation: Unusual somatic instability in the FMR-1 locus

✍ Kambouris, Marios; Snow, Karen; Thibodeau, Stephen; Bluhm, Denise; Green, Michae 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 469 KB 👁 1 views

Fragile X syndrome is associated with an unstable CGG-repeat in the FMR-1 gene. There are few reports of affected males transmitting the FMR-1 gene to offspring. We report on a family in which the propositus and his twin sister each had a full mutation with abnormal methylation. Their mother had an