Patients with mosaic methylation patterns of the Prader-Willi/Angelman Syndrome critical region exhibit AS-like phenotypes with some PWS features

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• 作者：Umut Aypar ; Nicole L. Hoppman ; Erik C. Thorland ; D. Brian Dawson
• 关键词：15q11.2 ; q13 ; PWASCR ; Chromosomal microarray ; MS ; MLPA ; Mosaic methylation
• 刊名：Molecular Cytogenetics
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：9
• 期：1
• 全文大小：966 KB
• 刊物主题：Cytogenetics; Molecular Medicine;
• 出版者：BioMed Central
• ISSN：1755-8166

文摘

Background Loss of expression of imprinted genes in the 15q11.2-q13 region is known to cause either Prader-Willi syndrome (PWS) or Angelman syndrome (AS), depending on the parent of origin. In some patients (1 % in PWS and 2–4 % in AS), the disease is due to aberrant imprinting or gene silencing, or both.