Inherited and de novo 22q11.2 distal duplications in two patients with autistic features, speech delay and no dysmorphology.
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.
Genetics Testing Center, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA.
Feras M
FM
Hantash
Genetics Testing Center, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA.
Boris T
BT
Wang
Genetics Testing Center, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA.
Renius
R
Owen
Quest Diagnostics, Denver, CO, USA.
Leslie P
LP
Ross
Quest Diagnostics, West Hills, CA, USA.
Loretta W
LW
Mahon
Genetics Testing Center, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA.
Fatih Z
FZ
Boyar
Genetics Testing Center, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA.
Arturo
A
Anguiano
Genetics Testing Center, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA.
Charles M
CM
Strom
22q11.2; DiGeorge syndrome/valocardiofacial syndrome; autism; duplication; mental retardation; speech; tic behavior