Abstract
In a screen of patients by fluorescence in-situ hybridization and array comparative
genomic hybridization in the past two years (July 2007--July 2009), we identified
two patients with duplications in the 22q11.22-23, occurring outside the common DiGeorge
syndrome/valocardiofacial syndrome region. Fluorescent in-situ hybridization, multiplex
ligation-dependent probe amplification and high density bacterial artificial chromosomes
and oligo arrays were used to identify the extent of the duplications. In one patient
the duplication extended from LCR22-E/5 to LCR22-H/8, which is similar to recently
described 22q11.2 distal duplications, while in the second patient, a de novo duplication was identified extending between LCR22-E/5 to LCR22-F/6. The second proband
also harbored a de novo 15q14 duplication, complicating phenotype interpretation. The patients were affected
with speech delay and autistic features, but neither reported cardiac concern or dysmorphic
features.
Keywords
22q11.2 - duplication - mental retardation - autism - tic behavior - speech - DiGeorge
syndrome/valocardiofacial syndrome
