Reporting of diagnostic cytogenetic results

Azra H Ligon; Cynthia C Morton; Frederick R Bieber; Jonathan A Fletcher; Anne B S Giersch; Charles Lee; Mary Sandstrom; Stanislawa Weremowicz; Sheng Xiao; Paola Dal Cin

doi:10.1002/0471142905.hga01ds43

Reporting of diagnostic cytogenetic results

Azra H Ligon, Cynthia C Morton, Frederick R Bieber, Jonathan A Fletcher, Anne B S Giersch, Charles Lee, Mary Sandstrom, Stanislawa Weremowicz, Sheng Xiao, Paola Dal Cin

Division of Evolution, Infection and Genomics

Brigham and Womens Hospital

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	Appendix 1D
Journal	Current protocols in human genetics
Volume	Appendix 1
DOIs	https://doi.org/10.1002/0471142905.hga01ds43
Publication status	Published - Nov 2004

Keywords

Chromosome Aberrations
Chromosome Banding
Genetic Diseases, Inborn
Humans
In Situ Hybridization, Fluorescence
Journal Article

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10.1002/0471142905.hga01ds43

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title = "Reporting of diagnostic cytogenetic results",

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.",

keywords = "Chromosome Aberrations, Chromosome Banding, Genetic Diseases, Inborn, Humans, In Situ Hybridization, Fluorescence, Journal Article",

author = "Ligon, {Azra H} and Morton, {Cynthia C} and Bieber, {Frederick R} and Fletcher, {Jonathan A} and Giersch, {Anne B S} and Charles Lee and Mary Sandstrom and Stanislawa Weremowicz and Sheng Xiao and {Dal Cin}, Paola",

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T1 - Reporting of diagnostic cytogenetic results

AU - Ligon, Azra H

AU - Morton, Cynthia C

AU - Bieber, Frederick R

AU - Fletcher, Jonathan A

AU - Giersch, Anne B S

AU - Lee, Charles

AU - Sandstrom, Mary

AU - Weremowicz, Stanislawa

AU - Xiao, Sheng

AU - Dal Cin, Paola

PY - 2004/11

Y1 - 2004/11

N2 - 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.

AB - 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.

KW - Chromosome Aberrations

KW - Chromosome Banding

KW - Genetic Diseases, Inborn

KW - Humans

KW - In Situ Hybridization, Fluorescence

KW - Journal Article

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DO - 10.1002/0471142905.hga01ds43

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SN - 1934-8258

VL - Appendix 1

SP - Appendix 1D

JO - Current protocols in human genetics

JF - Current protocols in human genetics

ER -

Reporting of diagnostic cytogenetic results

Abstract

Keywords

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