Title of article :
Double Trisomy 48,XXY,+21 in a Neonate with Congenital Heart Disease
Author/Authors :
Bijanzadeh, Mahdi Atherosclerosis Research Center - Ahvaz JundiShapur University of Medical Sciences - Ahvaz - Iran , Rajaei Behbahani, Shahram Atherosclerosis Research Center - 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.
Keywords:
Keywords :
Down syndrome , Chromosome abnormalities , Congenital heart disease , Double aneuploidy , Klinefelter syndrome
Journal title :
Archives of Iranian Medicine
