Diversity of human chromosome structural rearrangements identified at the Center for Medical Genetics in 2002–2007

Abstract

Chromosome structure rearrangements could cause various human health problems. Even Down’s or Turner’s syndromes, which usually are determined by chromosome number change, in some cases could be caused by chromosome structure abnormalities. Here we present chromosome structure rearrangements which have been identified at Vilnius University Hospital “Santariškių Clinics” Centre for Medical Genetics in 2002–2007. In total, 106 persons with chromosome structure rearrangements were detected, including marker and derivative chromosomes, mosaic and familial cases. Chromosome 14 was most often mentioned among the detected abnormalities, meanwhile chromosomes 19 and Y had not been involved in any chromosome structure rearrangement. Translocation was the most frequent chromosome structure rearrangement type, comprising 44.3% of all our cases. Chromosome structure rearrangements most often described in literature, such as rob(13;14), t(13;20), del(18), inv(2) have been detected among our cases, too. Keywords: human cytogenetics, chromosome rearrangements, structure diversity, population incidence