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Double Trisomy 48,XXY,+21 in a Neonate with Congenital Heart Disease.
- Source :
-
Archives of Iranian medicine [Arch Iran Med] 2020 May 01; Vol. 23 (5), pp. 356-358. Date of Electronic Publication: 2020 May 01. - Publication Year :
- 2020
-
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.<br /> (© 2020 The Author(s). This is an open-access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.)
- Subjects :
- Down Syndrome complications
Down Syndrome genetics
Echocardiography
Heart Septal Defects, Ventricular complications
Heart Septal Defects, Ventricular genetics
Humans
Infant
Karyotype
Klinefelter Syndrome complications
Klinefelter Syndrome genetics
Male
Phenotype
Pulmonary Valve Stenosis complications
Pulmonary Valve Stenosis genetics
Down Syndrome diagnosis
Heart Septal Defects, Ventricular diagnosis
Klinefelter Syndrome diagnosis
Pulmonary Valve Stenosis diagnosis
Subjects
Details
- Language :
- English
- ISSN :
- 1735-3947
- Volume :
- 23
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Archives of Iranian medicine
- Publication Type :
- Academic Journal
- Accession number :
- 32383621
- Full Text :
- https://doi.org/10.34172/aim.2020.26