De novo deletion of chromosome 11q13.4-q14.3 in a boy with microcephaly, ptosis and developmental delay

Many distal deletions of chromosome 11q have been described, but reports on deletions of 11q13-q14 are rare in the literature. Here we describe the genotype and phenotype of a boy with a deletion of this region. We fine mapped the aberration with array-CGH, revealing an 18.2 Mb deletion. The main clinical features included microcephaly, ptosis and moderate developmental delay. The symptoms partially overlap with previously reported patients with a deletion in the same region.