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

Open Access
Authors
  • M.F. Gerretsen
  • W. Peelen
  • L.A.J. Rammeloo
  • D.R. Koolbergen
  • J. Hruda
Publication date 2009
Journal European Journal of Pediatrics
Volume | Issue number 168 | 12
Pages (from-to) 1479-1481
Organisations
  • Faculty of Medicine (AMC-UvA)
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
Document type Article
Published at https://doi.org/10.1007/s00431-009-0958-4
Downloads
320752.pdf (Final published version)
Permalink to this page
Back