Double Trisomy 48,XXY,+21 in a Neonate with Congenital Heart Disease-Reference-Cited by-同舟云学术

Double Trisomy 48,XXY,+21 in a Neonate with Congenital Heart Disease

Published:2020-05-01 Issue:5 Volume:23 Page:356-358
ISSN:1029-2977
Container-title:Archives of Iranian Medicine
language:en
Short-container-title:Arch Iran Med

Author:

Bijanzadeh Mahdi¹²,Rajaei Behbahani Shahram²³

Affiliation:

1. Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran

2. Atherosclerosis Research Center, Ahvaz JundiShapur University of Medical Sciences, Ahvaz, Iran

3. Division of Pediatric Cardiology, Department of Pediatrics, Golestan Hospital, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran

Abstract

Double trisomy 48, XXY, +21 or Down-Klinefelter syndrome is a rare occurrence and presents clinical manifestation of trisomy 21 in early life and of Klinefelter syndrome after 10 months of age. The phenotypic and karyotyping characteristics of a 2-month-old boy were reported. He had mild clinical feature of Down syndrome and echocardiographic features of atrioventricular (AV) septal defects with severe pulmonary valve stenosis.

Publisher

Maad Rayan Publishing Company

Subject

General Medicine

Link

http://www.aimjournal.ir/PDF/aim-23-356.pdf

Reference13 articles.

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2. Down-Klinefelter syndrome (48,XXY,+21) in a Child with Congenital Heart Disease: Case Report and Literature Review

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4. Down syndrome child with 48,XXY,+21 karyotype

5. Epidemiology of double aneuploidies involving chromosome 21 and the sex chromosomes