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Deletions and duplications of the 15q11-q13 region in spermatozoa from Prader-Willi syndrome fathers

18 Jan 2010

Abstract excerpt

Prader-Willi syndrome (PWS) is a genomic disorder mostly caused by deletions of 15q11-q13 region (70%). It has been suggested that the particular genomic architecture of 15q11-q13 region, characterized to be flanked by low copy repeats, could predispose it to Non-Allelic Homologous Recombination (NAHR). However, no studies in gametes of fathers of PWS individuals have been published to date. The objective of the...

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PMID: 20083560
DOI: 10.1093/molehr/gaq005

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