Retrospective study of the parental origin of the extra chromosome in trisomy 18 (Edwards syndrome)

Markus M. Nöthen*, Thomas Eggermann, Jeanette Erdmann, Bernd Eiben, Dieter Hofmann, Peter Propping, Gesa Schwanitz

*Corresponding author for this work
23 Citations (Scopus)

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%).

Original languageEnglish
JournalHuman Genetics
Volume92
Issue number4
Pages (from-to)347-349
Number of pages3
ISSN0340-6717
DOIs
Publication statusPublished - 01.10.1993

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