Wolf-Hirschhorn syndrome with cryptic 4p16.3 deletion and balanced/unbalanced mosaicism in the mother.
作者信息
Fryns J P, Smeets E, Devriendt K, Petit P
机构信息
Center for Human Genetics, U.Z. Gasthuisberg, University of Leuven, Belgium.
出版信息
Ann Genet. 1998;41(2):73-6.
PMID:9706336
Abstract
We present here a 6-year-old girl with the clinical signs of Wolf-Hirschhorn syndrome (WHS). Only after FISH studies the suspected 4p16.3 deletion could be confirmed. FISH studies in the mother showed that she was carrier of a balanced/unbalanced mosaicism with a 4p/16p translocation in 60% of the cells, and 4p16.3 deletion in 40% of the cells.
摘要
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