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Prenatal diagnosis of the fragile X using thymidine induction
Authors:Grant R Sutherland  Elizabeth Baker  Stuart Purvis-Smith  Athel Hockey  Ed Krumins  Sam Z Eichenbaum
Institution:1. Cytogenetics Unit, Adelaide Children's Hospital, North Adelaide, S.A. 5006, Australia;2. Cytogenetics Unit, Prince of Wales Hospital, Randwick, N.S.W. 2031, Australia;3. Genetic Counselling Clinic, King Edward Memorial Hospital for Women, Perth, W.A. 6000, Australia;4. Cytogenetics Unit, Royal Women's Hospital, Melbourne, Vic. 3000, Australia
Abstract:Eleven pregnancies in ten patients at risk for the fragile X were monitored by amniocentesis or chorion villus biopsy and induction of the fragile site using thymidine, methotrexate and FUdR. Three female fetuses and one male fetus were found to have the fragile X. The results obtained using thymidine induction were superior to those using methotrexate induction and probably better than those obtained using FUdR induction.
Keywords:Fragile X  Prenatal diagnosis  Thymidine  Amniocentesis  Chorion villus biopsy
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