Charcot‐Marie‐Tooth disease type 1A: the parental origin of a de novo 17p11.2‐p12 duplication
- 1 October 1994
- journal article
- Published by Wiley in Clinical Genetics
- Vol. 46 (4) , 291-294
- https://doi.org/10.1111/j.1399-0004.1994.tb04162.x
Abstract
Charcot‐Marie‐Tooth disease type 1A (CMT1A) is an autosomal dominant peripheral neuropathy associated with a DNA duplication on chromosome 17p11.2‐p12 in the majority of cases. Most of the sporadic cases are due to a de novo duplication. We have screened for this duplication in 11 Danish patients with CMT type 1, using four different techniques, and identified a de novo duplication in a sporadic case. Analysis of the fully informative pVAW409R3a alleles in this family showed the duplication to be of paternal origin.Keywords
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