Affiliations: Genetics Testing Center, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA | Quest Diagnostics, Denver, CO, USA | Quest Diagnostics, West Hills, CA, USA
Note:  Corresponding author: Feras M. Hantash, Quest Diagnostics Nichols Institute, 33608 Ortega Hwy, San Juan Capistrano, 92690, CA, USA. Tel.: +1 949 728 4286; Fax: +1 949 728 4874; E-mail: [email protected]
Note:  These authors contributed equally to this work and should be considered first co-authors.
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.