PRENATAL-DIAGNOSIS OF PALLISTER-KILLIAN SYNDROME

被引：37

作者：

SOUKUP, S ^{[1
]}

NEIDICH, K ^{[1
]}

机构：

[1] CHILDRENS HOSP,DIV HUMAN GENET,CINCINNATI,OH

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 35卷 / 04期

关键词：

isochromosome (12p); mosaicism;

D O I：

10.1002/ajmg.1320350417

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a case of Pallister-Killian syndrome ascertained by routine amniocentesis as i(12p). The i(12p) was also found in 4 tissues of the aborted fetus, where various degrees of mosaicism 46/47 + i(12p) were seen. Although autopsy showed no major malformations, some of the minor anomalies of Pallister-Killian syndrome were found.

引用

页码：526 / 528

页数：3

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