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
en Zh
| WPRIM
| ID: wpr-970887
Biblioteca responsable:
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
Asunto principal:
Diagnóstico Prenatal
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Deleción Cromosómica
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Hibridación Fluorescente in Situ
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Síndrome del Maullido del Gato
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Variaciones en el Número de Copia de ADN
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Feto
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Líquido Amniótico
Límite:
Female
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Humans
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Pregnancy
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2023
Tipo del documento:
Article