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 Resjournal_title
Cytogenetic and genome researchauthors
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 Ddoi
10.1159/000337923subject
Has Abstractpub_date
2012-01-01 00:00:00pages
242-5issue
4eissn
1424-8581issn
1424-859Xpii
000337923journal_volume
136pub_type
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