Clinical feature and pathogenic analysis of a fetus with split hand-foot malformation.
10.3760/cma.j.issn.1003-9406.2020.04.025
- Author:
Chuang LI
1
;
Yuan LYU
;
Rui HOU
;
Caixia LIU
;
Jesse LI-LING
;
Huan LI
Author Information
1. Department 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.
- Publication Type:Case Reports
- MeSH:
Chromosome Deletion;
Chromosomes, Human, Pair 7;
genetics;
Cytoplasmic Dyneins;
genetics;
DNA Copy Number Variations;
Fetus;
Humans;
In Situ Hybridization, Fluorescence;
Karyotyping;
Limb Deformities, Congenital;
genetics
- From:
Chinese Journal of Medical Genetics
2020;37(4):462-466
- CountryChina
- Language:Chinese
-
Abstract:
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.
