Hertz, Jens Michael3; Børglum, A D2; Brandt, C A2; Flint, T2; Bisgaard, C2
1 Human Genetics, Department of Clinical Research, Det Sundhedsvidenskabelige Fakultet, SDU2 unknown3 Human Genetics, Department of Clinical Research, Det Sundhedsvidenskabelige Fakultet, SDU
the parental origin of a de novo 17p11.2-p12 duplication
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.
Clinical Genetics, 1994, Vol 46, Issue 4, p. 291-4