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

M M Nöthen; T Eggermann; J Erdmann; B Eiben; D Hofmann; P Propping; G Schwanitz

doi:10.1007/BF01247332

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

Hum Genet. 1993 Oct;92(4):347-9. doi: 10.1007/BF01247332.

Authors

M M Nöthen¹, T Eggermann, J Erdmann, B Eiben, D Hofmann, P Propping, G Schwanitz

Affiliation

¹ Institut für Humangenetik, Universität Bonn, Germany.

PMID: 8225314
DOI: 10.1007/BF01247332

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%).

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Chromosome Aberrations / genetics*
Chromosome Disorders
Chromosome Mapping
Chromosomes, Human, Pair 18*
DNA / analysis
Electrophoresis, Polyacrylamide Gel
Extrachromosomal Inheritance / genetics*
Female
Genetic Markers
Humans
Male
Polymerase Chain Reaction
Retrospective Studies
Syndrome
Trisomy / genetics*

Substances

Genetic Markers
DNA