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Article

Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families.

Journal of medical genetics - 1 Jan 1992

MacMillan J C, Upadhyaya M, Harper P S

Abstract excerpt

The gene for Charcot-Marie-Tooth disease type 1a (CMT1a) has been localised to chromosome 17p11.2. Locus D17S122 is recognised by the DNA probe pVAW409R3 which detects an MspI polymorphism with three alleles in the normal population. Subjects with CMT1a show evidence of trisomy for this region of chromosome 17 by displaying either all three alleles or a dosage effect when only two alleles are present. This...

Topics

Alleles
Charcot-Marie-Tooth Disease
Chromosomes, Human, Pair 17
DNA Probes
Genetic Markers
Heterozygote
Humans
Trisomy

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 1552536
DOI: 10.1136/jmg.29.1.12
PMCID: PMC1015813

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1552536-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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