Prenatal diagnosis of a fetus with two small supernumerary marker chromosomes / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 1222-1225, 2019.
Article
em Zh
| WPRIM
| ID: wpr-781311
Biblioteca responsável:
WPRO
ABSTRACT
OBJECTIVE@#To explore the clinical significance of a prenatal case with two small supernumerary marker chromosomes (sSMC) through identification of their origins.@*METHODS@#G-banding chromosomal karyotyping analysis were carried out on fetal amniotic fluid sample and peripheral blood samples from both patients. Fluorescence in situ hybridization (FISH) and single nucleotide polymorphism-array (SNP-array) were used to analyze the component and size of the sSMCs.@*RESULTS@#The karyotype of the fetus was determined as 47, XX, +mar[53]/48, XX, +2 mar[31]/46, XX[14]. SNP-array has revealed four copies of chromosome 2q11.1q11.2 with a size of 2.6 Mb and three copies of 10p11.23q11.23 with a size of 20.6 Mb. The results was confirmed by FISH.@*CONCLUSION@#A rare chromosomal abnormality with two sSMCs was identified by combined karyotype analysis, SNP-array and FISH, which provided valuable information for prenatal diagnosis.
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Diagnóstico Pré-Natal
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Aberrações Cromossômicas
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Bandeamento Cromossômico
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Hibridização in Situ Fluorescente
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Polimorfismo de Nucleotídeo Único
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Feto
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Cariotipagem
Tipo de estudo:
Diagnostic_studies
Limite:
Female
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Humans
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Pregnancy
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Article