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De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age

Authors :
Julia Baptista
Bee Ling Ng
John A. Crolla
Patricia A. Jacobs
N. Simon Thomas
Joan K. Morris
Source :
Journal of Medical Genetics. 47:112-115
Publication Year :
2009
Publisher :
BMJ, 2009.

Abstract

Background: Congenital chromosome abnormalities are relatively common in our species and among structural abnormalities the most common class is balanced reciprocal translocations. Determining the parental origin of de novo balanced translocations may provide insights into how and when they arise. While there is a general paternal bias in the origin of non-recurrent unbalanced rearrangements, there are few data on parental origin of non-recurrent balanced rearrangements. Methods: The parental origin of a series of de novo balanced reciprocal translocations was determined using DNA from flow sorted derivative chromosomes and linkage analysis. Results: Of 27 translocations, we found 26 to be of paternal origin and only one of maternal origin. We also found the paternally derived translocations to be associated with a significantly increased paternal age (p

Details

ISSN :
14686244 and 00222593
Volume :
47
Database :
OpenAIRE
Journal :
Journal of Medical Genetics
Accession number :
edsair.doi.dedup.....b764ca4f53a56f0520f37c71dd69ae68