Chorionic villus sampling—short-term versus long-term culture in a subtle 2; 18 translocation |
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Authors: | Dr A. Smith M. Cohen G. den Dulk A. Guirguis |
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Affiliation: | Cytogenetics Unit, Oliver Latham Laboratory, Department of Health, P.O. Box 169, North Ryde, N.S.W. 2113, Australia |
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Abstract: | Prenatal diagnosis on chorionic villous tissue was performed for a woman with the karyotype 46,XX,t(2;18)(q32;q12)—a subtle ‘difficult’ translocation. The case illustrates the necessity of good quality cytogenetics for accurate prenatal diagnosis. For chorionic villi this can be obtained only with long-term culture. |
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Keywords: | Chorionic villous sampling Prenatal diagnosis Translocation |
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