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Array comparative genomic hybridization (aCGH) analysis in Prader–Willi syndrome

11 Feb 2008

Abstract excerpt

Prader-Willi syndrome (PWS) is due to loss of paternally expressed genes in the 15q11-q13 region generally from a paternal 15q11-q13 deletion. The proximal deletion breakpoint in the 15q11-q13 region occurs at one of two sites located within either of two large duplicons allowing for identification of two typical deletion subgroups. The larger type I (TI) deletion involving breakpoint 1 (BP1) is nearer to the...

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PMID: 18266248
DOI: 10.1002/ajmg.a.32249

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