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Double Aneuploidy 48,XXY,+21 Associated with a Congenital Heart Defect in a Neonate

A neonate with a double aneuploidy associated with congenital heart defect (CHD) suffered from cyanosis after birth. He had typical features of Down syndrome (DS) including hypertelorism, slightly lowset ears with protruding pinna. Doppler echocardiography indicated complex congenital heart disease...

詳細記述

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書誌詳細
主要な著者: Shu, X, Zou, C, Shen, Z
フォーマット: Artigo
言語:Inglês
出版事項: Macedonian Science of Sciences and Arts 2013
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4001422/
https://ncbi.nlm.nih.gov/pubmed/24778570
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2478/bjmg-2013-0038
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