Prenatal diagnosis for a fetus with 5p deletion syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 101-104, 2023.
Article
em Zh
| WPRIM
| ID: wpr-970887
Biblioteca responsável:
WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a fetus with club foot detected upon mid-pregnancy ultrasonography.@*METHODS@#Amniotic fluid of the fetus and peripheral blood samples of its parents were collected and subjected to G-banding karyotype analysis and copy number variation sequencing (CNV-seq). The result was verified by fluorescence in situ hybridization (FISH).@*RESULTS@#The fetus and its parents all had a normal karyotype. CNV-seq analysis revealed that the fetus has harbored a 23.12 Mb on chromosome 5 and a 21.46 Mb duplication on chromosome 7. FISH assay has verified that its mother has carried a cryptic t(5;7)(p14.3;q33) translocation.@*CONCLUSION@#CNV-seq combined with FISH can effectively detect cryptic chromosome aberrations, and can help to reduce severe birth defects and provide a basis for prenatal genetic counseling.
Texto completo:
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Índice:
WPRIM
Assunto principal:
Diagnóstico Pré-Natal
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Deleção Cromossômica
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Hibridização in Situ Fluorescente
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Síndrome de Cri-du-Chat
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Variações do Número de Cópias de DNA
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Feto
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Líquido Amniótico
Limite:
Female
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Humans
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Pregnancy
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2023
Tipo de documento:
Article