Genetic diagnosis and prenatal diagnosis of Angelman syndrome.
- VernacularTitle:Angelman综合征的诊断及其产前诊断
- Author:
Hui-lin WANG
1
;
De-sheng LIANG
;
Yan XIA
;
Chun XIA
;
Ling-qian WU
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Angelman Syndrome; diagnosis; genetics; Child, Preschool; Chromosomes, Human, Pair 15; genetics; Female; Humans; In Situ Hybridization, Fluorescence; Infant; Karyotyping; Male; Pregnancy; Prenatal Diagnosis
- From: Chinese Journal of Medical Genetics 2009;26(5):511-513
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo evaluate the conventional cytogenetic methods in genetic diagnosis and prenatal diagnosis in the family with a proband of Angelman syndrome (AS).
METHODSHigh-resolution G-banding karyotyping and fluorescence in situ hybridization (FISH) on metaphase chromosomes were performed.
RESULTSTwo AS patients and 1 normal fetus in the family were successfully detected by FISH.
CONCLUSIONOur result demonstrated that patient with type I AS could be detected by combining the techniques of high-resolution G-banding and FISH with clinical observation, which would offer accurate genetic counseling information to the geneticists and provide the prenatal diagnosis for the AS family.
