Genetic Etiology Analysis of A Case of Fetal Lymphedema

doi:10.12280/gjszjk.20240169

Abstract

Abstract:

We reported a case of fetal lymphedema. The chromosome karyotype analysis of fetus and single nucleotide polymorphism array (SNP array) of the amniotic fluid cells showed no abnormalities in the mid pregnancy. However, the pregnant woman perceived a decrease in fetal movement in the late pregnancy, and ultrasound indicated intrauterine stillbirth. Whole exome sequencing (WES) showed that the fetus carried loss of heterozygosity of CELSR1 gene c.5060-1_ 5069 delGCCATGCCTCA. The WES results also showed that the fetal father also carried the mutation and had a normal phenotype. There is a certain correlation between loss of heterozygosity in the CELSR1 gene and lymphedema, but its clinical phenotype is incomplete penetrance.

Key words: Whole exome sequencing, Chromosomes, Karyotyping, Polymorphism, single nucleotide, Genetic testing, CELSR1 gene

CHEN Xin-ying, HUANG Ting-ting, ZENG Shu-hong, JIANG Yu-ying, ZHUANG Jian-long. Genetic Etiology Analysis of A Case of Fetal Lymphedema[J]. Journal of International Reproductive Health/Family Planning, 2024, 43(5): 395-398.

Figures/Tables 3

References 13

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