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Article

Fra(X) frequency on the active X-chromosome and phenotype in heterozygous carriers of the fra(X) form of mental retardation.

American journal of medical genetics - 1 Jan 2000

Wilhelm D, Froster-Iskenius U, Paul J, Schwinger E

Abstract excerpt

Female heterozygotes of the fra(X) form of mental retardation show variable degrees of mental impairment and phenotype expression of the disorder. This might be an effect of inactivation of the X-chromosome which carries the fra(X)(q). Prior replication studies in heterozygous carriers gave contr...

Topics

Bromodeoxyuridine
Dosage Compensation, Genetic
Female
Fragile X Syndrome
Heterozygote
Humans
Intelligence
Male
Phenotype
Sex Chromosome Aberrations

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 3177461
DOI: 10.1002/ajmg.1320300141

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-3177461-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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