Clinical feature and pathogenic analysis of a fetus with split hand-foot malformation / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 462-466, 2020.
Article
in Zh
| WPRIM
| ID: wpr-826554
Responsible library:
WPRO
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.
Full text:
1
Database:
WPRIM
Main subject:
Chromosomes, Human, Pair 7
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Chromosome Deletion
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In Situ Hybridization, Fluorescence
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Limb Deformities, Congenital
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Cytoplasmic Dyneins
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DNA Copy Number Variations
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Fetus
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Genetics
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Karyotyping
Limits:
Humans
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2020
Document type:
Article