GENOMIC POLYMORPHISMS AND RISK FOR CHROMOSOME REARRANGEMENTS

Chromosome anomalies are an important cause of mortality and morbidity. They occur with high frequency in humans, being present in an estimated 10-30% of all fertilised eggs and in 1.1% of newborns. In the last ten years, great emphasis has been placed on those studies aimed to clarify the causes of numerical chromosome anomalies, the leading cause of spontaneous abortion.Only in the last 5 years, studies have been initiated aimed to clarify the causes of structural chromosome abnormalities (chromosome rearrangements) which are the most frequent ones in unselected newborns (0.58% half of them from parents with normal chromosomes). Our recent studies demonstrated that a few relatively common chromosome rearrangements originate from normal parents having submicroscopic chromosome anomalies present also in part of the population.We intend to investigate whether this situation may explain also other common rearrangements. This study may detect the unifying mechanisms underlying the most common structural chromosome anomalies and may lead to the definition of preconceptional and prenatal protocols to detect at risk people