A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome

BACKGROUND: Partial duplications of the distal 9q have been rarely reported in literatures. The key features included characteristic facial appearance, long fingers and toes, slight psychomotor retardation, heart murmur et al. But rare severe congenital heart defects (CHD) such as TOF were reported...

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Библиографические подробности
Опубликовано в: :Mol Cytogenet
Главные авторы: Liu, Jing, Hu, Hao, Ma, Na, Jia, Zhengjun, Zhou, Yuchun, Hu, Jiancheng, Wang, Hua
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2016
Предметы:
Case Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4960742/
https://ncbi.nlm.nih.gov/pubmed/27462370
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-016-0267-3
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