Retrospective study of the parental origin of the extra chromosome in trisomy 18 (Edwards syndrome).
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%).
Nöthen
M M
MM
Institut für Humangenetik, Universität Bonn, Germany.
Eggermann
T
T
Erdmann
J
J
Eiben
B
B
Hofmann
D
D
Propping
P
P
Schwanitz
G
G
D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002887:Chromosomes, Human, Pair 18; D004247:DNA / Q000032:analysis; D004591:Electrophoresis, Polyacrylamide Gel; D005111:Extrachromosomal Inheritance / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D012189:Retrospective Studies; D013577:Syndrome; D014314:Trisomy / Q000235:genetics*
D005819:Genetic Markers; D004247:DNA