14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient review of the literature and further evidence of a candidate region for CNS anomalies

摘要

Chromosome 14q11‐q22 deletion syndrome (OMIM 613457) is a rare contiguous gene syndrome. Two regions of overlap (RO) of the 14q12q21.1 deletion have been identified: a proximal region (RO1), including 1(*164874), (*600635), and (*167416) and a distal region (RO2), including and . We report a 6‐year‐old boy with mild dysmorphic facial features, global developmental delay, and hypoplasia of the corpus callosum.