Case report

Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report

Roland Haj¹ , Kelly Jackson² , Beth A Torchia¹ , Lisa G Shaffer¹ , Bassem A Bejjani¹ , Gordon C Gowans² and Michael E Ruff³

¹  Signature Genomic Laboratories, Spokane, WA, USA

²  Weisskopf Child Evaluation Center, Department of Pediatrics, University of Louisville, Louisville, KY, USA

³  Jasper Pediatric Associates, Jasper, IN, USA

author email corresponding author email

Molecular Cytogenetics 2009, 2:2doi:10.1186/1755-8166-2-2

Published:	7 January 2009

Abstract

Background

Complex chromosome rearrangements (CCRs), which involve more than two breakpoints on two or more chromosomes, are uncommon occurrences. Although most CCRs appear balanced at the level of the light microscope, many demonstrate cryptic, submicroscopic imbalances at the translocation breakpoints.

Results

We report a female with hearing loss and global developmental delay with a complex three-way unbalanced translocation (5;20;8)(q31;p11.2;p21) resulting in microdeletions on 5q31.2, 5q31.3, and 8p23.2 identified by karyotyping, microarray analysis and fluorescence in situ hybridization.

Discussion

The microdeletion of bands 8p23.2 may be associated with the hearing impairment. Furthermore, the characterization of this patient's chromosomal abnormalities demonstrates the importance of integrated technologies within contemporary cytogenetics laboratories.