Prenatal diagnosis for a pregnant woman affected with Williams-Beuren syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 495-497, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-771981
ABSTRACT
OBJECTIVE@#To carry out genetic diagnosis for a pregnant woman and her fetus.@*METHODS@#Chromosome G-banding and microarray analysis were used to analyze the woman featuring dysmorphism and recognition defect and her fetus featuring developmental retardation.@*RESULTS@#The karyotype of the woman was normal, but chromosome microarray analysis showed that she has carried a 1423 kb deletion at 7q11.23 region. Her fetus has carried a 1530 kb deletion at the same region. Both individuals were diagnosed as Williams-Beuren syndrome.@*CONCLUSION@#Familiarity with its clinical features and proper selection of genetic testing methods are crucial for the diagnosis of Williams-Beuren syndrome.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico Pré-Natal
/
Cromossomos Humanos Par 7
/
Testes Genéticos
/
Bandeamento Cromossômico
/
Síndrome de Williams
/
Diagnóstico
/
Cariotipagem
Tipo de estudo:
Estudo diagnóstico
Limite:
Criança
/
Feminino
/
Humanos
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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