[Prenatal diagnosis for a pregnant woman affected with Williams-Beuren syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(5): 495-497, 2019 May 10.
Article
en Zh
| MEDLINE
| ID: mdl-31030442
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:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Síndrome de Williams
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Child
/
Female
/
Humans
/
Pregnancy
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2019
Tipo del documento:
Article
País de afiliación:
China