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.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| 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:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico Pré-Natal
/
Deleção Cromossômica
/
Hibridização in Situ Fluorescente
/
Síndrome de Cri-du-Chat
/
Variações do Número de Cópias de DNA
/
Feto
/
Líquido Amniótico
Limite:
Feminino
/
Humanos
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2023
Tipo de documento:
Artigo