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- W2967769970 abstract "To carry out genetic diagnosis for a pregnant woman and her fetus.Chromosome G-banding and microarray analysis were used to analyze the woman featuring dysmorphism and recognition defect and her fetus featuring developmental retardation.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.Familiarity with its clinical features and proper selection of genetic testing methods are crucial for the diagnosis of Williams-Beuren syndrome." @default.
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- W2967769970 date "2019-05-10" @default.
- W2967769970 modified "2023-10-08" @default.
- W2967769970 title "[Prenatal diagnosis for a pregnant woman affected with Williams-Beuren syndrome]." @default.
- W2967769970 doi "https://doi.org/10.3760/cma.j.issn.1003-9406.2019.05.020" @default.
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