Prenatal diagnosis for a pregnant woman affected with Williams-Beuren syndrome / 中华医学遗传学杂志

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.