Prenatal diagnosis of Pallister-Killian syndrome in one twin

被引：3
|
作者：
Li, Lin [1 ]
Huang, Linhuan [1 ]
Huang, Xuan [1 ]
Lin, Shaobin [1 ]
He, Zhiming [1 ]
Fang, Qun [1 ]
机构：
[1] Sun Yat Sen Univ, Affiliated Hosp 1, Dept Obstet & Gynecol, Fetal Med Ctr, Guangzhou, Guangdong, Peoples R China
来源：
CLINICAL CASE REPORTS | 2018年 / 6卷 / 08期
基金：
中国国家自然科学基金;
关键词：
dichorionic diamniotic twins; microarray analysis; Pallister-Killian syndrome; prenatal diagnosis;
D O I：
10.1002/ccr3.1624
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Key Clinical Message Pallister-Killian syndrome (PKS) is often incidentally diagnosed prenatally due to ultrasound abnormalities or advanced maternal age. Severely shortened limbs could be the most outstanding abnormal observation in a fetus with PKS. PKS can be detected with the highest mosaic ratio by chromosomal microarray analysis (CMA) on uncultured amniocytes prenatally.
引用
收藏
页码：1470 / 1473
页数：4
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