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Prenatal diagnosis of a fetus with two small supernumerary marker chromosomes / 中华医学遗传学杂志
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.
Assuntos
Texto completo: 1 Índice: WPRIM Assunto principal: Diagnóstico Pré-Natal / Aberrações Cromossômicas / Bandeamento Cromossômico / Hibridização in Situ Fluorescente / Polimorfismo de Nucleotídeo Único / Feto / Cariotipagem Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Pregnancy Idioma: Zh Revista: Chinese Journal of Medical Genetics Ano de publicação: 2019 Tipo de documento: Article
Texto completo: 1 Índice: WPRIM Assunto principal: Diagnóstico Pré-Natal / Aberrações Cromossômicas / Bandeamento Cromossômico / Hibridização in Situ Fluorescente / Polimorfismo de Nucleotídeo Único / Feto / Cariotipagem Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Pregnancy Idioma: Zh Revista: Chinese Journal of Medical Genetics Ano de publicação: 2019 Tipo de documento: Article