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Arch Iran Med. 2020;23(5): 356-358.
doi: 10.34172/aim.2020.26
  Abstract View: 208
  PDF Download: 109

Case Report

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

Mahdi Bijanzadeh 1,2 * , Shahram Rajaei Behbahani 2,3

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
*Corresponding Author: Mahdi Bijanzadeh, MD, PhD; School of Medicine, Department of Medical Genetics, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 61355-33118, Khuzestan, Iran. Tel: +989161117707; Fax: +986133332036; Email: mbijanz@yahoo.com

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.
Keywords: Down syndrome, Chromosome abnormalities, Congenital heart disease, Double aneuploidy, Klinefelter syndrome
Cite this article as: Bijanzadeh M, Rajaei Behbahani S. Double trisomy 48,XXY,+21 in a neonate with congenital heart disease. Arch Iran Med. 2020;23(5):356–358. doi: 10.34172/aim.2020.26.
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Submitted: 17 Oct 2018
Accepted: 11 Dec 2019
ePublished: 01 May 2020
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