Angelman syndrome
Angelman's syndrome
Prader-Willi syndrome and Angelman syndrome are neurogenetic disorders that are caused by the loss of function of imprinted genes in 15q11-q13. Prader-Willi and Angelman syndromes (PWS and AS) typically result from an approximately 4-Mb deletion of human chromosome 15q11-q13, with clustered breakpoints (BP) at either of two proximal sites (BP1 and BP2) and one distal site (BP3).
References
Mann MR, Bartolomei MS. Towards a molecular understanding of Prader-Willi and Angelman syndromes. Hum Mol Genet. 1999;8(10):1867-73. PMID: #10469839#
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