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

Overview

Journal Mol Cytogenet

Publisher Biomed Central

Specialty Biochemistry

Date 2009 Jan 9

PMID 19128483

Citations 2

Authors

Roland Haj

Kelly Jackson

Beth A Torchia

Lisa G Shaffer

Bassem A Bejjani

Gordon C Gowans

Michael W Ruff

Affiliations

Soon will be listed here.

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.

Citing Articles

Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype: case report.

de Vree P, Simon M, van Dooren M, Stoevelaar G, Hilkmann J, Rongen M Mol Cytogenet. 2009; 2:15.

PMID: 19594915 PMC: 2723125. DOI: 10.1186/1755-8166-2-15.

Complex human chromosomal and genomic rearrangements.

Zhang F, Carvalho C, Lupski J Trends Genet. 2009; 25(7):298-307.

PMID: 19560228 PMC: 4464790. DOI: 10.1016/j.tig.2009.05.005.

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