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 |
|
|
