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

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.

SUBMITTER: Gerretsen MF

PROVIDER: S-EPMC2772960 | biostudies-other | 2009 Dec

REPOSITORIES: biostudies-other

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