RESUMO
We report a patient presenting with neurodevelopmental disorder, cleft palate, micrognathia, relatively mild microcephaly (-2 SD), and ventricular septal defect for whom a 9p terminal deletion was identified by aCGH at birth. The analyses of the samples taken prenatally showed that this terminal deletion resulted from the recombination of a dicentric chromosome which was transmitted to the zygote. Indeed, an inverted duplication with terminal deletion of the short arm of chromosome 9 [invdupdel(9p)] was found in a mosaic state in the placenta. To our knowledge, it is the first reported patient with a terminal deletion present in all tested cells of the blood associated with an invdupdel of the same chromosome in the placenta. This case highlights the role of postzygotic breakages of dicentric chromosomes, a possible underestimated mechanism of formation of terminal deletions. It raises the question of genetic counseling in cases of prenatally detected invdupdels.
