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

doi:10.1007/BF01247332

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

Institute of Cardiogenetics

29 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 language	English
Journal	Human Genetics
Volume	92
Issue number	4
Pages (from-to)	347-349
Number of pages	3
ISSN	0340-6717
DOIs	https://doi.org/10.1007/BF01247332
Publication status	Published - 01.10.1993

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SDG 5 Gender Equality

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10.1007/BF01247332

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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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AU - Nöthen, Markus M.

AU - Eggermann, Thomas

AU - Erdmann, Jeanette

AU - Eiben, Bernd

AU - Hofmann, Dieter

AU - Propping, Peter

AU - Schwanitz, Gesa

PY - 1993/10/1

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N2 - 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%).

AB - 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%).

UR - https://www.scopus.com/pages/publications/0027487914

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

Abstract

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