叶状全前脑畸形与Xq22缺失
Lobar holoprosencephaly and Xq22 deletion.
作者信息
Petit P, Moerman P, Fryns J P
机构信息
Center for Human Genetics, University of Leuven, Belgium.
出版信息
Genet Couns. 1991;2(2):119-21.
PMID:1781956
Abstract
A 20 weeks gestation female fetus with a lobar holoprosencephaly and Xq22 deletion is described. The phenotype correlation of the cerebral defect with the facial features is positive. On the contrary phenotypic-karyotypic correlation is non obvious.
摘要
描述了一名妊娠20周的女性胎儿，患有叶状全前脑畸形和Xq22缺失。脑部缺陷与面部特征的表型相关性为阳性。相反，表型与核型的相关性不明显。
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