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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Macedonian Science of Sciences and Arts
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4001422/ https://www.ncbi.nlm.nih.gov/pubmed/24778570 http://dx.doi.org/10.2478/bjmg-2013-0038 |