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DOUBLE ANEUPLOIDY 48,XXY,+21 ASSOCIATED WITH A CONGENITAL HEART DEFECT IN A NEONATE Cover

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DOUBLE ANEUPLOIDY 48,XXY,+21 ASSOCIATED WITH A CONGENITAL HEART DEFECT IN A NEONATE

Balkan Journal of Medical Genetics

Volume 16 (2013): Issue 2 (December 2013)

By: X. Shu, C. Zou and Z. Shen

Open Access

|Mar 2014

Abstract

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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Articles in this issue

DOI: https://doi.org/10.2478/bjmg-2013-0038 | Journal eISSN: 2199-5761 | Journal ISSN: 1311-0160

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Language: English

Page range: 85 - 89

Published on: Mar 11, 2014

Published by: Macedonian Academy of Sciences and Arts

In partnership with: Paradigm Publishing Services

Publication frequency: 2 issues per year

Keywords:

Double aneuploidy,

Down syndrome (DS),

Klinefelter syndrome (KS),

Congenital heart defect (CHD)

Related subjects:

Basic medical science,

Basic medical science, other

© 2014 X. Shu, C. Zou, Z. Shen, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.

Volume 16 (2013): Issue 2 (December 2013)

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