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Article

Clinical investigation of females with the Martin-Bell syndrome and risk assessment for carrier status.

Clinical genetics - 1 Jul 1991

Thake A, Webb T, Marshall T

Abstract excerpt

Anthropometric measurements were made on a series of females heterozygous for the fragile-X syndrome. It was found that there were no simple series of discriminating features separating those of normal IQ from the mentally handicapped, but rather that the carriers studied represented a wide spectrum of phenotype. When measurements performed on 15 FRAXA negative, obligate carriers of normal IQ were considered...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 1884516
DOI: 10.1111/j.1399-0004.1991.tb03066.x

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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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Clinical investigation of females with the Martin-Bell syndrome and risk assessment for carrier status.PMID 1884516Read ↗

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The female and the fragile X. A study of 144 obligate female carriers.Semantic proximity Read ↗

[A clinical and molecular genetic analysis of the fragile X syndrome].Semantic proximity Read ↗

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A clinical, cytogenetic and familial study of 307 mentally retarded, institutionalized, adult male patients with special interest for fra(X) negative X-linked mental retardation.Semantic proximity Read ↗

Two families with Xq27.3 fragility, no detectable insert in the FMR-1 gene, mild mental impairment, and absence of the Martin-Bell phenotype.Semantic proximity Read ↗

[The role of the marker X chromosome in the diagnosis of Martin-Bell syndrome (review of the literature)].Semantic proximity Read ↗

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