5q35.3缺失
Deletion 5q35.3.
作者信息
Stratton R F, Tedrowe N A, Tolworthy J A, Patterson R M, Ryan S G, Young R S
机构信息
South Texas Genetics Center, San Antonio 78229.
出版信息
Am J Med Genet. 1994 Jun 1;51(2):150-2. doi: 10.1002/ajmg.1320510214.
PMID:8092192
Abstract
We report on a 15-month-old boy with a de novo deletion of the terminal band of 5q, macrocephaly, mild retrognathia, anteverted nares with low flat nasal bridge, telecanthus, minor earlobe anomalies, bell-shaped chest, diastasis recti, short fingers, and mild developmental delay.
摘要
我们报告了一名15个月大的男孩，其5号染色体长臂末端条带存在新发缺失，伴有巨头畸形、轻度下颌后缩、鼻孔前倾且鼻梁低平、内眦距增宽、耳垂轻度异常、钟形胸、腹直肌分离、手指短小以及轻度发育迟缓。
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