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JMD 2006, Vol. 8, No. 4
Copyright © 2006 American Society for Investigative Pathology & Association for Molecular Pathology

Consultations in Molecular Diagnostics

Application of Multicolor Banding for Identification of Complex Chromosome 18 Rearrangements

Jie Hu*,{dagger}{ddagger}, Malini Sathanoori*§, Sally J. Kochmar* and Urvashi Surti*{ddagger}§

From the Pittsburgh Cytogenetics Laboratory, * University of Pittsburgh Center for Human Genetics and Integrative Biology, Magee-Womens Hospital of University of Pittsburgh Medical Center Health System, Pittsburgh; the Department of Obstetrics, {dagger} Gynecology and Reproductive Sciences and the Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh; Magee Womens Research Institute, {ddagger} Pittsburgh; and the Department of Human Genetics, § University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania

Abstract

Multicolor chromosome banding (mBAND) is a recently developed technique that allows the delineation of chromosomal regions with a resolution of a few megabase pairs. The resolution of mBAND is slightly below that of conventional chromosome banding; however, the color bands have a great value in identifying chromosomal abnormalities, particularly complex chromosome rearrangements, and intrachromosome exchanges (ie, inversions, deletions, duplications, and insertions). These abnormalities cannot be defined easily by conventional cytogenetic analysis or chromosome paint. In this report, we present the application of the mBAND analysis for identification of complex intrachromosome rearrangements of chromosome 18 in a child with dysmorphic features.






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Copyright © 2006 by the American Society for Investigative Pathology and the Association for Molecular Pathology.