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Article

A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion.

Human genetics - 1 Oct 1996

Milà M, Castellví-Bel S, Giné R, Vazquez C, Badenas C, Sánchez A, Estivill X

Abstract excerpt

Fragile X syndrome is the most common cause of inherited mental retardation. The incidence has been estimated to be 1 in 1250 males and 1 in 2000 females. Molecular studies have shown that 95% of fragile X syndrome cases are caused by the expansion of a CGG triplet in the FMR1 gene with hypermethylation of the adjacent CpG island. In spite of the high incidence of this syndrome, a female with both FMR1 genes in...

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Source

Identifiers

PMID: 8792815
DOI: 10.1007/s004390050232

Genes

FMR1

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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