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Open Access 01-12-2009 | Original Paper

Double aortic arch with double aneuploidy—rare anomaly in combined Down and Klinefelter syndrome

Authors: Maaike F. Gerretsen, Willem Peelen, Lukas A. J. Rammeloo, David R. Koolbergen, Jaroslav Hruda

Published in: European Journal of Pediatrics | Issue 12/2009

Abstract

A 14-month-old boy with double aneuploidy and a double aortic arch suffered from frequently recurrent severe feeding and respiratory problems. Chromosomal analysis showed a 48,XXY + 21 karyotype: a double aneuploidy of Down syndrome (DS) and Klinefelter syndrome (KS). Only four cases of double aneuploidy (DS + KS) associated with congenital heart defects have been published of which none had a double aortic arch. Our case report should draw attention to the possibility of a double aortic arch in patients with severe feeding and respiratory problems and a double aneuploidy.

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Title: Double aortic arch with double aneuploidy—rare anomaly in combined Down and Klinefelter syndrome
Authors: Maaike F. Gerretsen
Willem Peelen
Lukas A. J. Rammeloo
David R. Koolbergen
Jaroslav Hruda
Publication date: 01-12-2009
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 12/2009
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-009-0958-4

2024 ASCO Annual Meeting

Springer Medicine

Double aortic arch with double aneuploidy—rare anomaly in combined Down and Klinefelter syndrome

Abstract

2024 ASCO Annual Meeting

Springer Medicine

Abstract

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