Mosaic normal/15q11-q13 duplication associated with developmental delay but normal phenotype.
作者信息
Goossens E, Decock P, Potgieter S, Fryns J P
机构信息
Center for Human Genetics, University of Leuven, Belgium.
出版信息
Genet Couns. 1999;10(2):133-6.
PMID:10422005
Abstract
We report a proximal duplication in the long arm of chromosome 15 (15q11-15q13) in mosaic with a normal cell line in a 4-year-old boy presenting developmental delay and history of seizures, but normal phenotype.
摘要
Zotero 插件