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Article

Transmitting males and carrier females in fragile X--revisited.

American journal of medical genetics - 15 Jul 1994

Loesch D Z, Hay D A, Mulley J

Abstract excerpt

Fragile X "transmitting males" have customarily been defined as phenotypically normal hemizygotes, who show very few or no fragile sites, and who transmit the fragile X premutation to phenotypically normal daughters. However, an objective justification of this definition was lacking. The discovery of an unstable CCG repeat as the genetic basis of fragile X further emphasized the apparent distinction between the...

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Identifiers

PMID: 7943005
DOI: 10.1002/ajmg.1320510418

Genes

FMR1

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Transmitting males and carrier females in fragile X--revisited.PMID 7943005Read ↗

Fragile X syndrome in females - a familial case report and review of the literature.Semantic proximity Read ↗

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Molecular-intelligence correlations in young fragile X males with a mild CGG repeat expansion in the FMR1 gene.Semantic proximity Read ↗

Familial transmission of the FMR1 CGG repeat.Semantic proximity Read ↗

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.Semantic proximity Read ↗

AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome.Semantic proximity Read ↗

Compound heterozygosity at the FMR1 gene.Semantic proximity Read ↗

Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles.Semantic proximity Read ↗

Characteristics of the transmission of the FMR1 gene from carrier females in a prospective sample of conceptuses.Semantic proximity Read ↗

Genetic variation and intergenerational FMR1 CGG-repeat stability in 100 unrelated three-generation families from the normal population.Semantic proximity Read ↗

Increased transmission of intermediate alleles of the FMR1 gene compared with normal alleles among female heterozygotes.Semantic proximity Read ↗

A study of the physical, behavioral, and medical phenotype, including anthropometric measures, of females with fragile X syndrome.Semantic proximity Read ↗

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