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Prader-Willi or Angelman syndrome in familial 15q11→q13 deletion of maternal origin?

✍ Scribed by Albert Schinzel; Wendy P. Robinson; Armand Bottani; Xie Yagang; Andrea Prader

Publisher
Springer
Year
1992
Tongue
English
Weight
122 KB
Volume
88
Category
Article
ISSN
0340-6717

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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

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✍ Wendy P. Robinson; Roland Spiegel; Albert A. Schinzel 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 372 KB

Deletions of 15q11.2-q12 are associated with either the Prader-Willi (PWS) or Angelman (AS) syndromes. It has been suggested that excessive recombination in this region might explain the high frequency of such deletions, and the frequent involvement of chromosome 15 in translocations and nondisjunct