Genetic Etiology Analysis of A Case of Fetal Lymphedema
CHEN Xin-ying
HUANG Ting-ting
ZENG Shu-hong
JIANG Yu-ying
ZHUANG Jian-long
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.
Keywords：Whole exome sequencingChromosomesKaryotypingPolymorphismsingle nucleotideGenetic testingCELSR1 gene
Publication Date：2024-09-15
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 395-398 )