科恩综合征与新发相互易位t(5;7)(q33.1;p15.1)
Cohen syndrome and de novo reciprocal translocation t(5;7)(q33.1;p15.1).
作者信息
Fryns J P, Kleczkowska A, Smeets E, Thiry P, Geutjens J, Van den Berghe H
机构信息
Center for Human Genetics, University of Leuven, Belgium.
出版信息
Am J Med Genet. 1990 Dec;37(4):546-7. doi: 10.1002/ajmg.1320370425.
PMID:2260606
Abstract
Here we report on a de novo apparently balanced reciprocal 5q;7p translocation in a 15-year-old girl with apparent Cohen syndrome characterized by hypotonia, obesity, multiple congenital anomalies, and mental retardation. This case may indicate that the gene for Cohen syndrome is at 5q33.1 or 7p15.1.
摘要
在此，我们报告一名15岁患有明显科恩综合征的女孩，其具有肌张力减退、肥胖、多种先天性异常和智力迟钝的特征，发生了一种新的、明显平衡的5号染色体长臂；7号染色体短臂相互易位。该病例可能表明科恩综合征基因位于5q33.1或7p15.1。
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