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On the parental origin of the deletion in Angelman syndrome

✍ Scribed by Joan H. M. Knoll; Robert D. Nicholls; Marc Lalande


Publisher
Springer
Year
1989
Tongue
English
Weight
137 KB
Volume
83
Category
Article
ISSN
0340-6717

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## Abstract We report on molecular studies in 7 patients with Wolf‐Hirschhorn syndrome (WHC) not showing an obvious chromosome 4p deletion. Analysis of a set of polymorphic probes mapping in the 4p16.3 region showed the absence of paternal haplotypes in 5 cases, and maternal haplotypes in 2. These

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About half of the cases of Angelman syndrome arise from deletions of chromosome band 15q12. In 25 cases we have been able to determine the parental origin of the deletion and, in line with other reported cases, we have found the deletion to be of maternal origin. There were no exceptions. The parent