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Form of 15q proximal duplication appears to be a normal euchromatic variant

✍ Scribed by Jalal, Syed M. ;Persons, Diane L. ;Dewald, Gordon W. ;Lindor, Noralane M.


Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
232 KB
Volume
52
Category
Article
ISSN
0148-7299

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✦ Synopsis


It is widely recognized that deletion involving 15q11.2-ql3 leads to either Prader-Willi or Angelman syndrome, depending on whether the deletion is paternal or maternal [Cassidy, 19921. It has also been reported that duplication or triplication of 15q11.2-ql3 may lead to phenotypic anomalies often including Prader-Willi or Angelman syndrome-like manifestations [