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

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 aneup...

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Autores principales: Gerretsen, Maaike F., Peelen, Willem, Rammeloo, Lukas A. J., Koolbergen, David R., Hruda, Jaroslav
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2009
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2772960/
https://www.ncbi.nlm.nih.gov/pubmed/19263078
http://dx.doi.org/10.1007/s00431-009-0958-4
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author Gerretsen, Maaike F.
Peelen, Willem
Rammeloo, Lukas A. J.
Koolbergen, David R.
Hruda, Jaroslav
author_facet Gerretsen, Maaike F.
Peelen, Willem
Rammeloo, Lukas A. J.
Koolbergen, David R.
Hruda, Jaroslav
author_sort Gerretsen, Maaike F.
collection PubMed
description 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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spelling pubmed-27729602009-11-06 Double aortic arch with double aneuploidy—rare anomaly in combined Down and Klinefelter syndrome Gerretsen, Maaike F. Peelen, Willem Rammeloo, Lukas A. J. Koolbergen, David R. Hruda, Jaroslav Eur J Pediatr Original Paper 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. Springer-Verlag 2009-03-05 2009 /pmc/articles/PMC2772960/ /pubmed/19263078 http://dx.doi.org/10.1007/s00431-009-0958-4 Text en © The Author(s) 2009 https://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.
spellingShingle Original Paper
Gerretsen, Maaike F.
Peelen, Willem
Rammeloo, Lukas A. J.
Koolbergen, David R.
Hruda, Jaroslav
Double aortic arch with double aneuploidy—rare anomaly in combined Down and Klinefelter syndrome
title Double aortic arch with double aneuploidy—rare anomaly in combined Down and Klinefelter syndrome
title_full Double aortic arch with double aneuploidy—rare anomaly in combined Down and Klinefelter syndrome
title_fullStr Double aortic arch with double aneuploidy—rare anomaly in combined Down and Klinefelter syndrome
title_full_unstemmed Double aortic arch with double aneuploidy—rare anomaly in combined Down and Klinefelter syndrome
title_short Double aortic arch with double aneuploidy—rare anomaly in combined Down and Klinefelter syndrome
title_sort double aortic arch with double aneuploidy—rare anomaly in combined down and klinefelter syndrome
topic Original Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2772960/
https://www.ncbi.nlm.nih.gov/pubmed/19263078
http://dx.doi.org/10.1007/s00431-009-0958-4
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