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Prenatal diagnosis of a true mosaic trisomy 20 substantiated by demonstration of a gene dosage effect for adenosine deaminase (ADA)
Authors:Dr P. Steinbach  M. Djalali  Marie-Odile Rolland
Affiliation:1. Abteilung Klinische Genetik. Universität Ulm, Frauenstrasse 29, D-7900 Ulm, Federal Republic of Germany;2. Biochemistry Laboratory. Hopital Debrousse, Lyon, France
Abstract:Fibroblasts from a fetus with the prenatal diagnosis of mosaic trisomy 20 were cloned by dilution plating. Adenosine deaminase (ADA), a biochemical marker for chromosome 20, was assayed in trisomic clones and normal clones as control. The cytogenetic diagnosis was substantiated by demonstration of a triplex gene dosage effect for ADA in the trisomic cells.
Keywords:Mosaic trisomy 20  Prenatal diagnosis  Adenosine deaminase
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