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

MPG-Autoren
http://pubman.mpdl.mpg.de/cone/persons/resource/persons50604

Tzschach,  A.
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

http://pubman.mpdl.mpg.de/cone/persons/resource/persons50369

Kalscheuer,  V.
Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Höckner.pdf
(Verlagsversion), 215KB

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Zitation

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.


Zitierlink: http://hdl.handle.net/11858/00-001M-0000-000E-EC6C-D
Zusammenfassung
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.