Further delineation of 2p13.2-p11.2 deletion syndrome by optical genome mapping

Deletions of the short arm of chromosome 2 are rare, and phenotypical differences depend on the cytobands involved. Here, we present a new patient carrying a de novo heterozygous 2p13-p11.2 deletion, detected by array CGH and further investigated by optical genome mapping. We compare his clinical findings with few other similar cases described in the literature, and with those associated with 2p12-p11.2 deletions. We conclude that the two conditions are clinically overlapping, and propose genes not previously implicated, such as TET3 and CCT7, may aggravate their main clinical features in the context of a contiguous multigenic deletion syndrome.