Reporting of diagnostic cytogenetic results

Curr Protoc Hum Genet. 2011 Jul:Appendix 1:1D. doi: 10.1002/0471142905.hga01ds70.

Abstract

This appendix, developed by the staff at the Clinical Cytogenetics Laboratory 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 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
  • Chromosome Disorders / diagnosis*
  • Cytogenetic Analysis*
  • Female
  • Genetic Testing / methods
  • Genetic Testing / standards*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Pregnancy
  • Prenatal Diagnosis*