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Similar molecular deletions on chromosome 15q11.2 are encountered in both the Prader-Willi and Angelman syndromes

✍ Scribed by T. A. Donlon


Book ID
104697102
Publisher
Springer
Year
1988
Tongue
English
Weight
938 KB
Volume
80
Category
Article
ISSN
0340-6717

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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

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The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are distinct genetic disorders that are caused by a deletion of chromosome region 15q11-13 or by uniparental disomy for chromosome 15. Whereas PWS results from the absence of a paternal copy of 15q11-13, the absence of a maternal copy of