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Retrospective study of the parental origin of the extra chromosome in trisomy 18 (Edwards syndrome) |
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| Authors: | Markus M Nöthen Thomas Eggermann Jeanette Erdmann Bernd Eiben Dieter Hofmann Peter Propping Gesa Schwanitz |
| Institution: | (1) Institut für Humangenetik der Universität Bonn, Bonn, Germany;(2) Evangelisches Krankenhaus Oberhausen, Oberhausen, Germany;(3) Institut für Kinderpathologie der Universität Bonn, Bonn, Germany;(4) Institut für Humangenetik der Universität Bonn, Wilhelmstrasse 31, D-53111 Bonn, Germany |
| Abstract: | The parental origin of the extra chromosome in trisomy 18 was traced in 30 informative families using highly polymorphic (CA) repeats mapped on the long arm of chromosome 18. Proband DNA was recovered from slides of chromosome preparations in 28 cases and from paraffin-embedded tissues in two cases. The extra chromosome was found to be of maternal origin in 26 cases (86.7%), and paternal origin in 4 cases (13.3%). |
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