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

Double Trisomy 48,XXY,+21 in a Neonate with Congenital Heart Disease. Arch Iran Med. 2020 May 01;23(5):356-358 Authors: Bijanzadeh M, Rajaei Behbahani S 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. PMID: 32383621 [PubMed - as supplied by publisher]
Source: Archives of Iranian Medicine - Category: Middle East Health Authors: Tags: Arch Iran Med Source Type: research