Investigação da variação no número de cópias  genômicas (CNVs) em pacientes com anomalias congênitas e atraso de desenvolvimento neuropsicomotor (ADNPM) pela técnica de MLPA (Multiplex Ligation-dependent Probe Amplification)

Abstract

Genome rearrangements are caused by the erroneous repair of DNA double-strand breaks (DSBs), leading to several alterations that results in loss or gain of the structural genomic of a dosage sensitive genes. However, the mechanisms that promote the complexity of rearrangements of congenital or developmental defects in human disease are poorly unclear. The investigation of complex genomic abnormalities could help to elucidate the mechanisms and causes for the formation and facilitate the understanding of congenital or developmental defects in human disease. We here report one case of a patient with atypical clinical features of the 1p36 syndrome and the use of cytogenomic techniques to characterize the genomic alterations. Analysis by multiplex ligation-dependent probe amplification (MLPA) and array revealed a complex rearrangement in the 1p36.3 region with deletions and duplication interspaced by normal sequences. We also suggest that chromoanagenesis could be a possible mechanism involved in the repair and stabilization of this rearrangement.