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Article

Difficult diagnosis of the fragile X syndrome made possible by direct detection of DNA mutations.

Journal of medical genetics - 1 Oct 1992

Tarleton J, Wong S, Heitz D, Schwartz C

Abstract excerpt

Genetic recombination near the fragile X locus (Xq27.3) has frequently been a problem in linkage studies of families in which the fragile X is segregating. This case report illustrates the resolution of a difficult situation in a fragile X family for whom cytogenetic studies were inconclusive and where recombination had twice confounded attempts at prenatal DNA diagnosis by RFLP analysis. Using a newly developed...

Topics

Blotting, Southern
DNA
DNA Probes
Female
Fragile X Syndrome
Genetic Linkage
Humans
Male
Mutation
Pedigree
Polymorphism, Restriction Fragment Length
Prenatal Diagnosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 1359145
DOI: 10.1136/jmg.29.10.726
PMCID: PMC1016132

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1359145-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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