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Multicolor banding remains an important adjunct to array CGH and conventional karyotyping

BACKGROUND: Array comparative genomic hybridization (CGH) for high resolution detection of chromosome imbalance, and karyotype analysis using G-banded chromosomes for detection of chromosome rearrangements, provide a powerful diagnostic armoury for clinical cytogenetics. However, abnormalities detec...

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Autores principales: Bint, Susan M, Davies, Angela F, Ogilvie, Caroline Mackie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3906906/
https://www.ncbi.nlm.nih.gov/pubmed/24314262
http://dx.doi.org/10.1186/1755-8166-6-55
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author Bint, Susan M
Davies, Angela F
Ogilvie, Caroline Mackie
author_facet Bint, Susan M
Davies, Angela F
Ogilvie, Caroline Mackie
author_sort Bint, Susan M
collection PubMed
description BACKGROUND: Array comparative genomic hybridization (CGH) for high resolution detection of chromosome imbalance, and karyotype analysis using G-banded chromosomes for detection of chromosome rearrangements, provide a powerful diagnostic armoury for clinical cytogenetics. However, abnormalities detected by karyotype analysis cannot always be characterised by scrutinising the G-banded pattern alone, and imbalance detected by array CGH cannot always be visualised in the context of metaphase chromosomes. In some cases further techniques are needed for detailed characterisation of chromosomal abnormalities. We investigated seven cases involving structural chromosome rearrangements detected by karyotype analysis, and one case where imbalance was primarily detected by array CGH. Multicolor banding (MCB) was used in all cases and proved invaluable in understanding the detailed structure of the abnormalities. FINDINGS: Karyotype analysis detected structural chromosome rearrangements in 7 cases and MCB was used to help refine the karyotype for each case. Array CGH detected imbalance in an eighth case, where previously, G-banded chromosome analysis had reported a normal karyotype. Karyotype analysis of a second tissue type revealed this abnormality in mosaic form; however, MCB was needed in order to characterise this rearrangement. MCB provided information for the delineation of small deletions, duplications, insertions and inversions and helped to assign breakpoints which were difficult to identify from G-banded preparations due to ambiguous banding patterns. CONCLUSION: Despite the recent advance of array CGH in molecular cytogenetics we conclude that fluorescence in situ hybridization, including MCB, is still required for the elucidation of structural chromosome rearrangements, and remains an essential adjunct in modern diagnostic laboratories.
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spelling pubmed-39069062014-01-31 Multicolor banding remains an important adjunct to array CGH and conventional karyotyping Bint, Susan M Davies, Angela F Ogilvie, Caroline Mackie Mol Cytogenet Short Report BACKGROUND: Array comparative genomic hybridization (CGH) for high resolution detection of chromosome imbalance, and karyotype analysis using G-banded chromosomes for detection of chromosome rearrangements, provide a powerful diagnostic armoury for clinical cytogenetics. However, abnormalities detected by karyotype analysis cannot always be characterised by scrutinising the G-banded pattern alone, and imbalance detected by array CGH cannot always be visualised in the context of metaphase chromosomes. In some cases further techniques are needed for detailed characterisation of chromosomal abnormalities. We investigated seven cases involving structural chromosome rearrangements detected by karyotype analysis, and one case where imbalance was primarily detected by array CGH. Multicolor banding (MCB) was used in all cases and proved invaluable in understanding the detailed structure of the abnormalities. FINDINGS: Karyotype analysis detected structural chromosome rearrangements in 7 cases and MCB was used to help refine the karyotype for each case. Array CGH detected imbalance in an eighth case, where previously, G-banded chromosome analysis had reported a normal karyotype. Karyotype analysis of a second tissue type revealed this abnormality in mosaic form; however, MCB was needed in order to characterise this rearrangement. MCB provided information for the delineation of small deletions, duplications, insertions and inversions and helped to assign breakpoints which were difficult to identify from G-banded preparations due to ambiguous banding patterns. CONCLUSION: Despite the recent advance of array CGH in molecular cytogenetics we conclude that fluorescence in situ hybridization, including MCB, is still required for the elucidation of structural chromosome rearrangements, and remains an essential adjunct in modern diagnostic laboratories. BioMed Central 2013-12-05 /pmc/articles/PMC3906906/ /pubmed/24314262 http://dx.doi.org/10.1186/1755-8166-6-55 Text en Copyright © 2013 Bint et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Short Report
Bint, Susan M
Davies, Angela F
Ogilvie, Caroline Mackie
Multicolor banding remains an important adjunct to array CGH and conventional karyotyping
title Multicolor banding remains an important adjunct to array CGH and conventional karyotyping
title_full Multicolor banding remains an important adjunct to array CGH and conventional karyotyping
title_fullStr Multicolor banding remains an important adjunct to array CGH and conventional karyotyping
title_full_unstemmed Multicolor banding remains an important adjunct to array CGH and conventional karyotyping
title_short Multicolor banding remains an important adjunct to array CGH and conventional karyotyping
title_sort multicolor banding remains an important adjunct to array cgh and conventional karyotyping
topic Short Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3906906/
https://www.ncbi.nlm.nih.gov/pubmed/24314262
http://dx.doi.org/10.1186/1755-8166-6-55
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