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[Clinical feature and pathogenic analysis of a fetus with split hand-foot malformation]
1Department of Gynecology and Obstetrics, Shengjing Hospital Affiliated to China Medical University, Key Laboratory of Maternal-Fetal Medicine of Liaoning Province, Shenyang, Liaoning 110004, China. 243583780@qq.com.
Objective:
To analyze the clinical feature of a fetus with split hand-foot malformation (SHFM) and to explore its etiology.
Methods:
Ultrasonographic finding of the fetus and X-ray examination of the abortus were reviewed. Genomic copy number variations (CNVs) of the fetus was analyzed by next-generation sequencing (NGS). Its parents were subjected to chromosomal karyotyping, NGS and fluorescence in situ hybridization (FISH) assays. Real-time fluorescence quantitative PCR was used to measure the expression of genes from the region containing abnormal CNVs.
Results:
Ultrasonography and X-ray revealed that the right hand and both feet of the fetus were in a V-shape, which was suggestive of SFHM. The results of NGS revealed that the fetus has carried a 0.36 Mb deletion at 7q21.3 region. FISH and NGS analysis of both parents were normal. Real-time fluorescence quantitative PCR confirmed that the fetus carried a single copy of DYNC1I1 gene, while the copy numbers of SEM1, DLX5 and DLX6 genes were normal.
Conclusion:
The 7q21.3 microdeletion probably underlies the SHFM of the fetus, which has a de novo origin.
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