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Article

Molecular studies of the fragile X syndrome.

American journal of medical genetics - 1 Jan 2000

Knight S J, Hirst M C, Roche A, Christodoulou Z, Huson S M, Winter R, Fitchett M, McKinley M J, Lindenbaum R H, Nakahori Y

Abstract excerpt

We have studied families segregating for the fragile X syndrome for the presence of amplification of the CGG repeat sequence adjacent to the HpaII Tiny Fragment (HTF) island in the FMR-1 gene. We demonstrate that 138/143 fragile X positive, mentally retarded males show a characteristic smear of f...

Topics

DNA Mutational Analysis
Female
Fragile X Syndrome
Gene Amplification
Genetic Carrier Screening
Genotype
Humans
Male
Molecular Biology
Pedigree
Phenotype
Repetitive Sequences, Nucleic Acid

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PMID: 1605194
DOI: 10.1002/ajmg.1320430135

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NTM

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1605194-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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