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Article

Molecular analysis of 53 fragile X families with the probe StB12.3.

American journal of medical genetics - 1 Dec 1994

Puissant H, Malinge M C, Larget-Piet A, Martin D, Chauveau P, Odent S, Plessis G, Parent P, Lemarec B, Larget-Piet L

Abstract excerpt

Fifty-three pedigrees with the fragile X syndrome have been studied for amplification of the CGG repeat sequence adjacent to the CpG island in the FMR1 gene. Probe StB12.3 allowed direct detection of affected males, carrier females, normal transmitting males, as well as prenatal diagnosis. Comparison of our molecular data with our previous linkage data from 38 families indicates the effectiveness of direct DNA...

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Source

Identifiers

PMID: 7864047
DOI: 10.1002/ajmg.1320530413

Genes

FMR1

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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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[A genetic and molecular study of 85 families affected with the fragile X syndrome].Semantic proximity Read ↗

Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.Semantic proximity Read ↗

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome.Semantic proximity Read ↗

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