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Prenatal ultrasonic characteristics and genetic analysis of fetuses with chromosome 22q11 microdeletion syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 853-856, 2021.
Artigo em Chinês | WPRIM | ID: wpr-921954
ABSTRACT
OBJECTIVE@#To analyze the prenatal ultrasonic characteristics and genetic features of 14 fetuses with chromosome 22q11 microdeletion syndrome (22q11DS).@*METHODS@#4989 fetuses were analyzed by using single nucleotide polymorphism array (SNP array) in the Fujian Maternal and Child Health Hospital from November 2016 to November 2019.@*RESULTS@#SNP array showed that 11 fetuses had classic 3 Mb microdeletion in 22q11 region, one fetus had 2.0 Mb microdeletion, and two fetuses had 1.0 Mb microdeletion. The 1.0 Mb microdeletion in 22q11 region contains SNAP29 and CRKL genes, which may increase the risk of congenital renal malformation and cardiovascular malformation.@*CONCLUSION@#Prenatal ultrasonic characteristics of fetuses with 22q11 microdeletion syndrome vary, and SNP array is a powerful tool to diagnose such diseases, which can provide accurate genetic diagnosis and enable prenatal diagnosis.
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Diagnóstico Pré-Natal / Ultrassom / Cromossomos Humanos Par 22 / Testes Genéticos / Deleção Cromossômica / Síndrome da Deleção 22q11 / Feto Tipo de estudo: Estudo diagnóstico / Estudo prognóstico Limite: Feminino / Humanos / Gravidez Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2021 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Diagnóstico Pré-Natal / Ultrassom / Cromossomos Humanos Par 22 / Testes Genéticos / Deleção Cromossômica / Síndrome da Deleção 22q11 / Feto Tipo de estudo: Estudo diagnóstico / Estudo prognóstico Limite: Feminino / Humanos / Gravidez Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2021 Tipo de documento: Artigo