Reporting of Diagnostic Cytogenetic Results

Anne B.S. Giersch1, Frederick R. Bieber1, Adrian M. Dubuc1, Jonathan A. Fletcher1, Azra H. Ligon1, Heather Mason‐Suares1, Cynthia C. Morton1, Stanislawa Weremowicz1, Sheng Xiao1, Paola Dal Cin1

1 Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts
Publication Name:  Current Protocols in Human Genetics
Unit Number:  Appendix 1D
DOI:  10.1002/0471142905.hg01ds89
Online Posting Date:  April, 2016
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Abstract

This appendix, developed by the staff at the Center for Advanced Molecular Diagnostics in the Department of Pathology at the Brigham and Women's Hospital, includes a comprehensive list of current “macros” or standardized statements used to facilitate reporting of cytogenetic results. These are provided as a useful reference for other laboratories. The statements are organized under the general categories of constitutional or acquired abnormalities and subdivided into analysis type (GTG‐banding, FISH, or chromosomal microarray). Multi‐specimen usage macros are included that can be applied to two or more specimen types. © 2016 by John Wiley & Sons, Inc.

Keywords: clinical cytogenetics; diagnostic; reporting; test results

     
 
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Table of Contents

  • Introduction
  • I. Constitutional Chromosome Abnormalities
  • II. ACQUIRED CHROMOSOME ABNORMALITIES
     
 
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Materials

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Literature Cited

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