源自16q的间质性缺失和环状染色体。
Interstitial deletion and ring chromosome derived from 16q.
作者信息
Krauss C M, Caldwell D, Atkins L
出版信息
J Med Genet. 1987 May;24(5):308-12. doi: 10.1136/jmg.24.5.308.
Abstract
An interstitial deletion of 16q was identified in an infant with failure to thrive, dysmorphic facies, and congenital heart defects. The mother of this infant had a similar deletion of 16q with ring formation of a fragment presumed to be derived from the deleted portion of 16q. We discuss these cases and compare them to other reports of 16q deletions.
摘要
在一名患有发育迟缓、面部畸形和先天性心脏缺陷的婴儿中发现了16号染色体长臂的间质缺失。该婴儿的母亲有类似的16号染色体长臂缺失，并伴有一个推测源自16号染色体长臂缺失部分的片段形成环状。我们讨论了这些病例，并将它们与其他16号染色体长臂缺失的报告进行了比较。
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