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Article

Prevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of the fragile X syndrome.

American journal of human genetics - 1 Nov 1995

Rousseau F, Rouillard P, Morel M L, Khandjian E W, Morgan K

Abstract excerpt

The fragile X syndrome is the second leading cause of mental retardation after Down syndrome. Fragile X premutations are not associated with any clinical phenotype but are at high risk of expanding to full mutations causing the disease when they are transmitted by a carrier woman. There is no reliable estimate of the prevalence of women who are carriers of fragile X premutations. We have screened 10,624...

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Identifiers

PMID: 7485149
PMCID: PMC1801357

Genes

FMR1

Provenance

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.

Related research

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Research trail→

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Prevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of the fragile X syndrome.PMID 7485149Read ↗

Expansion to full mutation of a FMR1 intermediate allele over two generations.Semantic proximity Read ↗

The fragile X syndrome: implications of molecular genetics for the clinical syndrome.Semantic proximity Read ↗

Screening for fragile X syndrome in women of reproductive ageSemantic proximity Read ↗

Fragile X syndrome screening in pregnant women and women planning pregnancy shows a remarkably high FMR1 premutation prevalence in the Balearic Islands.Semantic proximity Read ↗

The risk of fragile X premutation expansion is lower in carriers detected by general prenatal screening than in carriers from known fragile X families.Semantic proximity Read ↗

Development of Chinese genetic reference panel for Fragile X Syndrome and its application to the screen of 10,000 Chinese pregnant women and women planning pregnancy.Semantic proximity Read ↗

Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation.Semantic proximity Read ↗

Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel.Semantic proximity Read ↗

Prenatal diagnosis and carrier screening for fragile X by PCR.Semantic proximity Read ↗

Paternal transmission of a FMR1 full mutation allele.Semantic proximity Read ↗

Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events?Semantic proximity Read ↗

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