[Genetic diagnosis and prenatal diagnosis of Angelman syndrome].
OBJECTIVE
To evaluate the conventional cytogenetic methods in genetic diagnosis and prenatal diagnosis in the family with a proband of Angelman syndrome (AS).


METHODS
High-resolution G-banding karyotyping and fluorescence in situ hybridization (FISH) on metaphase chromosomes were performed.


RESULTS
Two AS patients and 1 normal fetus in the family were successfully detected by FISH.


CONCLUSIONS
Our 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.
Wang
Hui-lin
HL
State Key Laboratory of Medical Genetics of China, Central South University, Changsha, Hunan, 410078, PR China.
Liang
De-sheng
DS
Xia
Yan
Y
Xia
Chun
C
Wu
Ling-qian
LQ
D000328:Adult; D017204:Angelman Syndrome / Q000175:diagnosis* / Q000235:genetics*; D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis