Complete Penetrance but Different Phenotypes in a Korean Family with Maternal Interstitial Duplication at 15q11.2-q13.1: A Case Report

• প্রধান লেখক: Ji Yoon Han (লেখক), Hyun Joo Lee (লেখক), Young-Mock Lee (লেখক), Joonhong Park (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: MDPI AG, 2021-04-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

The 15q duplication syndrome (dup15q) is due to the presence of at least one additional derived copy of the Prader-Willi syndrome/Angelman syndrome (PWS/AS) critical region that is approximately 5 Mb long within chromosome 15q11.2-q13.1. This report describes distinct roles of the origin of intersti...