46、XY、der(10)、t(3;10)(q23;q26.3)新生核型不平衡男孩的3q2三体和Pierre-Robin序列分析

Helvetica paediatrica acta Pub Date : 1988-11-01
A Kleczkowska, J P Fryns, F Moerman, M Martens, E Eggermont, J Jaeken, H Van den Berghe
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引用次数: 0

摘要

3号染色体长臂部分三体(3q23----3qter)报道了一个畸形男婴与皮埃尔-罗宾序列。讨论了染色体异常检测对畸形序列分类学的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Trisomy 3q2 and Pierre-Robin sequence in a boy with unbalanced 46,XY, der(10), t(3;10)(q23;q26.3) de novo karyotype.

A partial trisomy of the long arm of chromosome number 3 (3q23----3qter) is reported in a malformed male newborn with a Pierre-Robin sequence. The importance of the detection of chromosomal abnormalities towards the nosology of malformation sequences is discussed.

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