Cited 6 times since 2009 (0.4 per year) source: EuropePMC European journal of pediatrics, Volume 168, Issue 12, 5 1 2009, Pages 1479-1481 Double aortic arch with double aneuploidy--rare anomaly in combined Down and Klinefelter syndrome. Gerretsen MF, Peelen W, Rammeloo LA, Koolbergen DR, Hruda J
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.
