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.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-826554
Biblioteca responsável:
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.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Cromossomos Humanos Par 7
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Deleção Cromossômica
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Hibridização in Situ Fluorescente
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Deformidades Congênitas dos Membros
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Dineínas do Citoplasma
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Variações do Número de Cópias de DNA
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Feto
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Genética
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Cariotipagem
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2020
Tipo de documento:
Artigo