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Article

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

American journal of diseases of children (1960) - 1 Nov 1993

Hull C, Hagerman R J

Abstract excerpt

The physical features of fragile X, including a long face, prominent ears, and hyperextensible joints, are present in affected males and females. Cytogenetically negative heterozygotes have been considered to be unaffected by the fragile X mental retardation-1 (FMR-1) gene. This study investigated the penetrance of the FMR-1 gene in cytogenetically negative but DNA-positive heterozygotes with a premutation...

Topics

Adolescent
Adult
Anthropometry
Cytosine Nucleotides
DNA
Female
Fragile X Syndrome
Gene Amplification
Heterozygote
Humans
Intelligence Tests
Medical History Taking

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Mutation

Physical Examination

Source

Identifiers

PMID: 8237919
DOI: 10.1001/archpedi.1993.02160350110017

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8237919-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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