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

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

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...

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Bibliographic Details
Main Authors: Ji Yoon Han, Hyun Joo Lee, Young-Mock Lee, Joonhong Park
Format: Article
Language:English
Published: MDPI AG 2021-04-01
Series:Children
Subjects:
maternal origin
interstitial duplication
15q11.2-q13.1
schizophrenia
autism spectrum disorder
different phenotypes
Online Access:https://www.mdpi.com/2227-9067/8/4/313

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https://www.mdpi.com/2227-9067/8/4/313

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