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  Parental Origin of de novo Cytogenetically Balanced Reciprocal Non-Robertsonian Translocations

Höckner, M., Spreiz, A., Frühmesser, A., Tzschach, A., Dufke, A., Rittinger, O., et al. (2012). Parental Origin of de novo Cytogenetically Balanced Reciprocal Non-Robertsonian Translocations. Cytogenetics and Genome Research, 136(4), 242-245. doi:10.1159/000337923.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-000E-EC6C-D Version Permalink: http://hdl.handle.net/11858/00-001M-0000-000E-EC6D-B
Genre: Journal Article

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Höckner.pdf (Publisher version), 215KB
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© 2012 S. Karger AG, Basel
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 Creators:
Höckner, M., Author
Spreiz, A., Author
Frühmesser, A., Author
Tzschach, A.1, Author              
Dufke, A., Author
Rittinger, O., Author
Kalscheuer, V.2, Author              
Singer, S., Author
Erdel, M., Author
Fauth, C., Author
Grossmann, V., Author
Utermann, G., Author
Zschocke, J., Author
Kotzot, D., Author
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, Berlin, Germany, ou_1433549              
2Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, Berlin, Germany, ou_1479642              

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Free keywords: Meiosis Mitosis Parental origin Translocation
 Abstract: De novo cytogenetically balanced reciprocal non-Robertsonian translocations are rare findings in clinical cytogenetics and might be associated with an abnormal phenotype. Knowledge of the parental origin and mechanisms of formation is still limited. By microdissection of the derivative chromosomes and their normal homologs from metaphases followed by microsatellite-mediated marker analysis we identified 7 cases of paternal and 3 cases of maternal origin in a cohort of 10 patients with de novo cytogenetically balanced reciprocal non-Robertsonian translocations. Neither in the maternal nor in the paternal group of our study parental age seems to be increased. Together with the data from the literature our results confirm that the majority of de novo cytogenetically balanced reciprocal translocations are of paternal origin, but the preponderance does not appear to be as distinct as previously thought and the paternal age does not seem to be necessarily a major contributing factor.

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Language(s): eng - English
 Dates: 2012-04-182012
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: Peer
 Identifiers: DOI: 10.1159/000337923
 Degree: -

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Title: Cytogenetics and Genome Research
  Other : Cytogenet Genome Res.
Source Genre: Journal
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Publ. Info: Basel : S. Karger.
Pages: - Volume / Issue: 136 (4) Sequence Number: - Start / End Page: 242 - 245 Identifier: ISSN: 0301-0171
CoNE: https://pure.mpg.de/cone/journals/resource/111006469463154