Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A.

doi:10.1212/wnl.42.12.2295

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Article

Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A.

Neurology - 1 Dec 1992

Chance P F, Bird T D, Matsunami N, Lensch M W, Brothman A R, Feldman G M

Abstract excerpt

Charcot-Marie-Tooth neuropathy type 1A (CMT1A) is associated with a DNA duplication on chromosome 17, band p11.2, resulting in partial trisomy for this region in CMT1A patients. The 17p11.2 duplication may lead to the CMT1A phenotype either through disruption of a gene at the duplication breakpoi...

Topics

Adolescent
Autoradiography
Charcot-Marie-Tooth Disease
Chromosome Mapping
Chromosomes, Human, Pair 17
Female
Genetic Markers
Humans
Karyotyping
Phenotype
Trisomy

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