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双主动脉弓伴双非整倍体——唐氏综合征与克莱恩费尔特综合征合并的罕见异常。

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

机构信息

Department of Pediatric Cardiology, VU University Medical Center, Amsterdam, The Netherlands.

出版信息

Eur J Pediatr. 2009 Dec;168(12):1479-81. doi: 10.1007/s00431-009-0958-4. Epub 2009 Mar 5.

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.

摘要

一名 14 个月大的男孩患有双重性染色体三体和双重主动脉弓,经常反复出现严重的进食和呼吸问题。染色体分析显示其核型为 48,XXY + 21:即唐氏综合征(DS)和克莱恩费尔特综合征(KS)的双重性染色体三体。仅有四起双重性染色体三体(DS + KS)合并先天性心脏缺陷的病例报告,其中无一例合并双重主动脉弓。我们的病例报告应引起人们对严重进食和呼吸问题及双重性染色体三体患者存在双重主动脉弓的可能性的关注。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ebf/2772960/c2c18f01f21f/431_2009_958_Fig1_HTML.jpg

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