Mahdi Bijanzadeh
1,2*, Shahram Rajaei Behbahani
2,31 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: *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: , 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.