Reporting of diagnostic cytogenetic results

Curr Protoc Hum Genet. 2004 Nov:Appendix 1:Appendix 1D. doi: 10.1002/0471142905.hga01ds43.

Abstract

This appendix, developed by the staff at the Clinical Cytogenetics Laboratory at the Brigham and Women's Hospital, provides a comprehensive list of the facilities' current "macros" or standardized statements, used to facilitate reporting of cytogenetic results. These are provided as a reference for other laboratories. The statements are organized under the general categories of constitutional or acquired abnormalities and subdivided into analysis type (GTG-banding or FISH). Multi-specimen usage macros are included that can be applied to two or more specimen types.

MeSH terms

  • Chromosome Aberrations*
  • Chromosome Banding*
  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Diseases, Inborn / genetics
  • Humans
  • In Situ Hybridization, Fluorescence