Work

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

Year: 2020

Type: article

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.

Source: Archives of Iranian Medicine

DOI: 10.34172/aim.2020.26

Authors: Mahdi Bijanzadeh, Shahram Rajaei Behbahani

Institution: Ahvaz Jundishapur University of Medical Sciences

Language: English

Topic: Down syndrome and intellectual disability research

Subfield: Public Health, Environmental and Occupational Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Funder: Ahvaz Jundishapur University of Medical Sciences