On the parental origin of the deletion in Angelman syndrome
β 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 WolfβHirschhorn 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
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