J Pediatr Genet 2012; 01(02): 115-124
DOI: 10.3233/PGE-2012-019
Georg Thieme Verlag KG Stuttgart – New York

Inherited and de novo 22q11.2 distal duplications in two patients with autistic features, speech delay and no dysmorphology

Feras M. Hantash**
a   Genetics Testing Center, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA
,
Boris T. Wang**
a   Genetics Testing Center, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA
,
Renius Owen**
a   Genetics Testing Center, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA
,
Leslie P. Ross
b   Quest Diagnostics, Denver, CO, USA
,
Loretta W. Mahon
c   Quest Diagnostics, West Hills, CA, USA
,
Fatih Z. Boyar
a   Genetics Testing Center, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA
,
Arturo Anguiano
a   Genetics Testing Center, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA
,
Charles M. Strom
a   Genetics Testing Center, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA
› Author Affiliations

Subject Editor:
Further Information

Publication History

01 July 2010

27 December 2010

Publication Date:
27 July 2015 (online)

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.

** These authors contributed equally to this work and should be considered first co-authors.