Prenatal diagnosis of Pallister-Killian syndrome in one twin.
Prenatal diagnosis of Pallister-Killian syndrome in one twin.
复制标题
一名双胞胎帕利斯特-基利安综合征的产前诊断
DOI：
10.1002/ccr3.1624
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发表时间：
2018-08
影响因子：
0.7
通讯作者：
Fang Q
中科院分区：
文献类型：
--
作者：
Li L;Huang L;Huang X;Lin S;He Z;Fang Q
Pallister-Killian综合征(PKS)通常在产前因超声异常或高龄孕妇而被意外诊断。严重的肢体短缩可能是PKS胎儿最显著的异常表现。染色体微阵列分析(CMA)可在未培养的羊水细胞中检测到最高嵌合率的PKS。
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.