帕利斯特-基利安综合征的产前诊断。
Prenatal diagnosis of Pallister-Killian syndrome.
作者信息
Soukup S, Neidich K
机构信息
Division of Human Genetics, Children's Hospital, Cincinnati, Ohio.
出版信息
Am J Med Genet. 1990 Apr;35(4):526-8. doi: 10.1002/ajmg.1320350417.
PMID:1692181
Abstract
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.
摘要
我们描述了一例经常规羊膜穿刺术确诊为i(12p)的帕利斯特-基利安综合征病例。在流产胎儿的4个组织中也发现了i(12p)，其中可见不同程度的46/47 + i(12p)嵌合体。尽管尸检未发现重大畸形，但发现了一些帕利斯特-基利安综合征的轻微异常。
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