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Article

Fragile-X syndrome and skewed X-chromosome inactivation within a family: a female member with complete inactivation of the functional X chromosome.

American journal of medical genetics. Part A - 1 Oct 2003

Heine-Suñer D, Torres-Juan L, Morlà M, Busquets X, Barceló F, Picó G, Bonilla L, Govea N, Bernués M, Rosell J

Abstract excerpt

Fragile X syndrome is the most common form of inherited mental retardation. It is caused by the increase in length of a stretch of CGG triplet repeats within the FMR1 gene. A full mutation (> 200 repeats) leads to methylation of the CpG island and silencing of the FMR1 gene. We present here two sisters that are compound heterozygotes for a full mutation and a 53 repeat intermediate allele, one of them showing...

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Source

Identifiers

PMID: 12955761
DOI: 10.1002/ajmg.a.20160

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Fragile-X syndrome and skewed X-chromosome inactivation within a family: a female member with complete inactivation of the functional X chromosome.PMID 12955761Read ↗

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