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Article

Genotype mosaicism in fragile X fetal tissues.

Human genetics - 1 Apr 1992

Wöhrle D, Hirst M C, Kennerknecht I, Davies K E, Steinbach P

Abstract excerpt

The fragile X syndrome is one of the most common familial causes of mental retardation. It is associated with the expression of a fragile site at Xq27.3, although not all individuals carrying the mutation are fragile-X-positive. Recently, the mutation causing this disease has been identified as the amplification of, or insertion into, a CGG repeat sequence at the fragile site. The mutated chromosome can be...

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Share to Prenatal Diagnosis
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Polymorphism, Restriction Fragment Length

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Source

Identifiers

PMID: 1349561
DOI: 10.1007/BF00207057

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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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