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...

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Detalles Bibliográficos
Autores principales: Shu, X, Zou, C, Shen, Z
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Macedonian Science of Sciences and Arts 2013
Materias:
Case Report
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
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author Shu, X
Zou, C
Shen, Z
author_facet Shu, X
Zou, C
Shen, Z
author_sort Shu, X
collection PubMed
description 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 with an ostium secundum atrial septal defect, enlarged right ventricle, and mild tricuspid valve regurgitation. Further chromosomal analysis showed a karyotype of 48,XXY,+21: a double aneuploidy of DS and Klinefelter syndrome (KS). Until now, only seven cases of double aneuploidy associated with CHD defect have been reported.
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spelling pubmed-40014222014-04-28 Double Aneuploidy 48,XXY,+21 Associated with a Congenital Heart Defect in a Neonate Shu, X Zou, C Shen, Z Balkan J Med Genet Case Report 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 with an ostium secundum atrial septal defect, enlarged right ventricle, and mild tricuspid valve regurgitation. Further chromosomal analysis showed a karyotype of 48,XXY,+21: a double aneuploidy of DS and Klinefelter syndrome (KS). Until now, only seven cases of double aneuploidy associated with CHD defect have been reported. Macedonian Science of Sciences and Arts 2013-12 2013-11-03 /pmc/articles/PMC4001422/ /pubmed/24778570 http://dx.doi.org/10.2478/bjmg-2013-0038 Text en © Macedonian Academy of Sciences and Arts This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivs license (http://creativecommons.org/licenses/by-nc-nd/3.0/), which means that the text may be used for non-commercial purposes, provided credit is given to the author.
spellingShingle Case Report
Shu, X
Zou, C
Shen, Z
Double Aneuploidy 48,XXY,+21 Associated with a Congenital Heart Defect in a Neonate
title Double Aneuploidy 48,XXY,+21 Associated with a Congenital Heart Defect in a Neonate
title_full Double Aneuploidy 48,XXY,+21 Associated with a Congenital Heart Defect in a Neonate
title_fullStr Double Aneuploidy 48,XXY,+21 Associated with a Congenital Heart Defect in a Neonate
title_full_unstemmed Double Aneuploidy 48,XXY,+21 Associated with a Congenital Heart Defect in a Neonate
title_short Double Aneuploidy 48,XXY,+21 Associated with a Congenital Heart Defect in a Neonate
title_sort double aneuploidy 48,xxy,+21 associated with a congenital heart defect in a neonate
topic Case Report
url 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
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