MADISON, Wis.--(BUSINESS WIRE)--Chromosomal rearrangements leading to genomic disorders are often mediated by low-copy repeat regions of the genome (e.g. segmental duplications). Roche NimbleGen CGH arrays offer expanded probe coverage in these regions. Using this technique, the authors of a recently published paper1 identified a recurrent reciprocal genomic rearrangement of chromosomal region 17q12 in fetal samples with congenital anomalies that is also associated with pediatric renal disease and epilepsy. The results emphasize the importance of evaluating de novo structural variation events in pediatric diseases other than mental retardation and the importance of duplication architecture as a predisposing factor for disease.
