Interrupted aortic arch in a child with trisomy 5q31.1q35.1 due to a maternal (20;5) balanced insertion.
Interrupted aortic arch in a child with trisomy 5q31.1q35.1 due to a maternal (20;5) balanced insertion.
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由于母体 (20;5) 平衡插入，导致 5q31.1q35.1 三体症儿童的主动脉弓中断。
DOI：
10.1002/ajmg.a.10064
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发表时间：
2003
期刊：
影响因子：
--
通讯作者：
Gorski,JeromeL
中科院分区：
文献类型：
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作者：
Martin,DonnaM;Mindell,MargaretH;Kwierant,ChristineA;Glover,ThomasW;Gorski,JeromeL
复杂先天性心脏病（CHD）与多种单基因异常和染色体重排有关。在各种形式的冠心病中，主动脉弓中断，一种圆锥动脉干的心脏缺陷，相对罕见。我们报告一例男性新生儿，患有主动脉弓中断B型、继发性房间隔缺损、膜周部室间隔缺损、动脉导管未闭、主动脉瓣和主动脉瓣下狭窄以及由母体平衡插入引起的5q31.1q35.1三体综合征（20;5）。染色体缺失，包括缺失22 q11，已报告与主动脉弓中断（IAA），然而，据我们所知，这是第一个报告的远端染色体5 q三体与主动脉弓中断。在这里，我们比较这个孩子的特点，其他情况下的三体5q31.1q35.1，并审查其他原因的IAA。我们的结论是，在这个染色体区域的基因剂量可能会影响主动脉弓的发展。© 2003 Wiley利斯公司
Complex congenital heart defects (CHD) are associated with a variety of single gene abnormalities and chromosomal rearrangements. Of the various forms of CHD, aortic arch interruption, a conotruncal heart defect, is relatively uncommon. Here we report a male neonate with aortic arch interruption type B, secundum atrial septal defect, perimembranous ventricular septal defect, patent ductus arteriosus, aortic and subaortic stenosis, and trisomy 5q31.1q35.1 resulting from a maternal balanced insertion (20;5). Chromosomal deletions, including deletion 22q11, have been reported with interrupted aortic arch (IAA); however, to our knowledge this is the first report of a trisomy of distal chromosome 5q associated with aortic arch interruption. Here we compare this child's features to other cases of trisomy 5q31.1q35.1, and review other causes of IAA. We conclude that gene dosage in this chromosomal region likely influences aortic arch development. © 2003 Wiley‐Liss, Inc.