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Article

Detection of tandem duplications and implications for linkage analysis.

American journal of human genetics - 1 Jun 1994

Matise T C, Chakravarti A, Patel P I, Lupski J R, Nelis E, Timmerman V, Van Broeckhoven C, Weeks D E

Abstract excerpt

The first demonstration of an autosomal dominant human disease caused by segmental trisomy came in 1991 for Charcot-Marie-Tooth disease type 1A (CMT1A). For this disorder, the segmental trisomy is due to a large tandem duplication of 1.5 Mb of DNA located on chromosome 17p11.2-p12. The search for the CMT1A disease gene was misdirected and impeded because some chromosome 17 genetic markers that are linked to CMT1A...

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PMID: 8198134
PMCID: PMC1918201

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