Genetic studies of Prader-Willi patients from Taiwan identify two patients with atypical deletions and provide evidences for conservation of genomic architecture in proximal chromosome 15q

• Main Authors: Lin, Shuan Pei., Ho, Shi Yun., Chen, Yen Jiun., Huang, Chi Yu., Chiu, Hui Ching., Chuang, Chih Kuang., Hou, Aihua., Chen, Jennifer Chi Fung., Lin, Hsiang Yu., Chen, Ken-Shiung.
• Other Authors: School of Biological Sciences
• Format: Article
• Language: English
• Published: 2011
• Subjects: DRNTU::Science::Biological sciences::Genetics
• Online Access: https://hdl.handle.net/10356/94104; http://hdl.handle.net/10220/7172
• Institution: Nanyang Technological University

Prader-Willi syndrome (PWS) is a neurogenetic disorder associated with recurrent genomic recombination involving low copy repeats (LCRs) located in the human chromosome 15q11-q13. Previous studies of PWS patients from Asia suggested that there is a higher incidence of deletion and lower incidence of maternal uniparental disomy (mUPD) compared to that of Western populations. Despite a lack of data from Asians regarding the incident of deletion subtypes to allow for further comparison, it has previously been proposed that ethnic differences in genomic architecture may be responsible for the discrepancy in genetic etiology observed. In this report, we present genetic etiology of twenty-eight PWS patients from Taiwan. Consistent with the genetic etiology findings from Western populations, the type II deletion appears to be the most common deletion subtype.