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Vol. 136, No. 1, 2012
Issue release date: January 2012
Section title: Original Article
Cytogenet Genome Res 2012;136:6–14
(DOI:10.1159/000334271)

Characterizing Small Supernumerary Marker Chromosomes with Combination of Multiple Techniques

Yu S. · Fiedler S.D. · Brawner S.J. · Joyce J.M. · Zhou X.G. · Liu H.Y.
aDepartment of Pathology, Children’s Mercy Hospitals and Clinics and University of Missouri-Kansas City School of Medicine, Kansas City, Mo., USA; bDepartment of Cardiac Surgery, The First Affiliated Hospital of Harbin Medical University, Harbin, China

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Article / Publication Details

First-Page Preview
Abstract of Original Article

Accepted: 8/1/2011
Published online: 11/23/2011

Number of Print Pages: 9
Number of Figures: 3
Number of Tables: 1

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR

Abstract

Fourteen cases with constitutional small supernumerary marker chromosomes (sSMCs) were assessed by combination of diverse techniques including genome-wide high-resolution chromosomal microarray (CMA), chromosome banding analysis (G banding), fluorescence in situ hybridization (FISH), and quantitative real-time PCR (qPCR). Of the 14 sSMCs, 4 were complex sSMCs composed of genomic materials from more than one chromosome, 7 were simple sSMCs which contain only centromeric and/or pericentromeric regions from individual chromosomes, and the remaining 3 sSMCs contained inverted duplications. CMA precisely defined the breakpoints and genetic contents in 12 of the 14 sSMCs but failed to identify 2 of the 14 sSMCs due to lack of detectable euchromatin. In addition, CMA revealed unexpected genomic abnormalities in 2 cases. FISH techniques were necessary for the determination of the physical location, structure, formation mechanism, mosaic level, and origin of all these sSMCs. Our data emphasize the necessity to combine these methods for comprehensive characterization of sSMCs


  

Author Contacts

Shihui Yu
Department of Pathology, Children’s Mercy Hospitals and Clinics
2401 Gillham Rd.
Kansas City, MO 64108 (USA)
Tel. +1 816 802 1220, E-Mail syu1@cmh.edu

  

Article Information

Accepted: August 1, 2011 by M. Schmid
Published online: November 23, 2011
Number of Print Pages : 9
Number of Figures : 3, Number of Tables : 1, Number of References : 34
Additional supplementary material is available online - Number of Parts : 15

  

Publication Details

Cytogenetic and Genome Research

Vol. 136, No. 1, Year 2012 (Cover Date: January 2012)

Journal Editor: Schmid M. (Würzburg)
ISSN: 1424-8581 (Print), eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR


Article / Publication Details

First-Page Preview
Abstract of Original Article

Accepted: 8/1/2011
Published online: 11/23/2011

Number of Print Pages: 9
Number of Figures: 3
Number of Tables: 1

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR


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