Prenatal diagnosis of zellweger's syndrome by chorionic villus sampling-and a caveat |
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Authors: | W F Carey E F Robertson C Van Crugten A Poulos P V Nelson G Finikiotis |
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Institution: | 1. Department of Chemical Pathology, Adelaide Children's Hospital, North Adelaide, South Australia, 5006;2. Department of Obstetrics and Gynaecology, Flinders Medical Centre, Bedford Park, South Australia, 5032 |
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Abstract: | At 7·5 weeks gestation, two small chorionic villous biopsies were obtained from a woman at risk for Zellweger's cerebro-hepato-renal syndrome, and were separately established in culture. After 3 weeks, dihydroxyacetone phosphate acyltransferase (DHAP-AT) activity was measured in both cultures. The enzyme was markedly deficient in one cell strain and this was subsequently shown to have a male karyotype. However, the second culture had normal enzyme activity and a female karyotype. The pregnancy was terminated at 11·5 weeks gestation, and follow-up studies on fetal tissues confirmed a male fetus with markedly deficient DHAP-AT activity. |
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Keywords: | Zellweger syndrome Dihydroxyacetone phosphate acyltransferase Chorionic villi Prenatal diagnosis |
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