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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Detalles Bibliográficos
Autores principales: Han, Ji Yoon, Lee, Hyun Joo, Lee, Young-Mock, Park, Joonhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8074356/
https://www.ncbi.nlm.nih.gov/pubmed/33924158
http://dx.doi.org/10.3390/children8040313

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8074356/
https://www.ncbi.nlm.nih.gov/pubmed/33924158
http://dx.doi.org/10.3390/children8040313

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