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- W196443044 abstract "To evaluate the conventional cytogenetic methods in genetic diagnosis and prenatal diagnosis in the family with a proband of Angelman syndrome (AS).High-resolution G-banding karyotyping and fluorescence in situ hybridization (FISH) on metaphase chromosomes were performed.Two AS patients and 1 normal fetus in the family were successfully detected by FISH.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." @default.
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- W196443044 date "2009-10-01" @default.
- W196443044 modified "2023-09-27" @default.
- W196443044 title "[Genetic diagnosis and prenatal diagnosis of Angelman syndrome]." @default.
- W196443044 doi "https://doi.org/10.3760/cma.j.issn.1003-9406.2009.05.006" @default.
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