Prenatal diagnosis of a case with Branchi-oto-renal syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1210-1212, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-781314
ABSTRACT
OBJECTIVE@#To carry out prenatal diagnosis for a women with Branchio-oto-renal syndrome by using chromosomal microarray analysis (CMA).@*METHODS@#Peripheral blood chromosomal karyotyping and CMA were used to analyze the gravida with an abnormal phenotype. Pathological copy number variants (CNVs) were validated in other members of the family members and her fetus.@*RESULTS@#The gravida and her daughter both had Branchio-oto-renal syndrome and a 8q13.3 microdeletion encompassing the EYA1 gene. The same microdeletion was also found in the fetus. No phenotypic or genotypic anomaly was found with other members of the family.@*CONCLUSION@#Mutation of the EYA1 gene probably underlies the Branchio-oto-renal syndrome in this family, which is consistent with an autosomal dominant inheritance.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Diagnóstico Pré-Natal
/
Proteínas Nucleares
/
Proteínas Tirosina Fosfatases
/
Síndrome Brânquio-Otorrenal
/
Peptídeos e Proteínas de Sinalização Intracelular
/
Diagnóstico
/
Genética
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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