Parental origin of de novo cytogenetically balanced reciprocal non-Robertsonian translocations.

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.

journal_name

Cytogenet Genome Res

authors

Höckner M,Spreiz A,Frühmesser A,Tzschach A,Dufke A,Rittinger O,Kalscheuer V,Singer S,Erdel M,Fauth C,Grossmann V,Utermann G,Zschocke J,Kotzot D

doi

10.1159/000337923

subject

Has Abstract

pub_date

2012-01-01 00:00:00

pages

242-5

issue

4

eissn

1424-8581

issn

1424-859X

pii

000337923

journal_volume

136

pub_type

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