How to count chromosomes in a cell: An overview of current and novel technologies

BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology
Bjorn BakkerFloris Foijer

Abstract

Aneuploidy, an aberrant number of chromosomes in a cell, is a feature of several syndromes associated with cognitive and developmental defects. In addition, aneuploidy is considered a hallmark of cancer cells and has been suggested to play a role in neurodegenerative disease. To better understand the relationship between aneuploidy and disease, various methods to measure the chromosome numbers in cells have been developed, each with their own advantages and limitations. While some methods rely on dividing cells and thus bias aneuploidy rates to that population, other, more unbiased methods can only detect the average aneuploidy rates in a cell population, cloaking cell-to-cell heterogeneity. Furthermore, some techniques are more prone to technical artefacts, which can result in over- or underestimation of aneuploidy rates. In this review, we provide an overview of several "traditional" karyotyping methods as well as the latest high throughput next generation sequencing karyotyping protocols with their respective advantages and disadvantages.

References

Apr 5, 2000·Molecular Pathology : MP·M M WeissP J van Diest
Apr 18, 2002·Proceedings of the National Academy of Sciences of the United States of America·Frank B DeanRoger S Lasken
May 25, 2002·Cancer Investigation·Jane M Bayani, Jeremy A Squire
Apr 9, 1960·Lancet·J H EDWARDSO H WOLFF
Apr 9, 1960·Lancet·K PATAUH P WAGNER
Oct 1, 1995·Trends in Cell Biology·K L Manchester
Feb 6, 2004·Genome Research·Graham R BignellRichard Wooster
Jun 3, 2004·Cancer Genetics and Cytogenetics·Alina KuźniackaNils Mandahl
Dec 1, 2004·Human Reproduction Update·F PellestorS Hamamah
Mar 8, 2005·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·Yuri B YurovSvetlana G Vorsanova
Apr 20, 2005·Proceedings of the National Academy of Sciences of the United States of America·M A KingsburyJ Chun
Sep 8, 2005·Nature Reviews. Genetics·Michael R Speicher, Nigel P Carter
Jun 7, 2006·Cell Biology International·Leon P BignoldHubertus P A Jersmann
Oct 19, 2006·Current Opinion in Cell Biology·Beth A A Weaver, Don W Cleveland
Nov 18, 2006·Genome Génome / Conseil National De Recherches Canada·Jiming Jiang, Bikram S Gill
Apr 5, 2007·Nature Protocols·Hesed M Padilla-NashThomas Ried
Apr 12, 2007·Nature Reviews. Molecular Cell Biology·Andrea Musacchio, Edward D Salmon
Jun 29, 2007·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Birgit MoschThomas Arendt
Jul 3, 2007·Cell·Peter M Lansdorp
Dec 29, 2007·Current Opinion in Biotechnology·Anne Kallioniemi
Jan 30, 2008·Current Protocols in Cell Biology·Jane Bayani, Jeremy Squire
Feb 15, 2008·The Journal of Comparative Neurology·Jurjen W WestraJerold Chun
Jun 19, 2008·Genetics·Eduardo M TorresAngelika Amon
Aug 19, 2008·Biochimica Et Biophysica Acta·Floris FoijerPeter K Sorger
Jun 24, 2009·Nature Reviews. Molecular Cell Biology·Andrew J Holland, Don W Cleveland
Nov 19, 2009·American Journal of Medical Genetics. Part a·Giovanni Neri, John M Opitz
Dec 18, 2009·Nature·Ester FalconerPeter M Lansdorp
Jan 23, 2010·Nature Reviews. Cancer·Juan-Manuel SchvartzmanRobert Benezra
Feb 26, 2010·Molecular Cytogenetics·Svetlana G VorsanovaIvan Y Iourov
Dec 21, 2010·Nature Biotechnology·H Christina FanStephen R Quake
Mar 8, 2011·Cell·Douglas Hanahan, Robert A Weinberg
Mar 15, 2011·Nature·Nicholas NavinMichael Wigler
Aug 23, 2011·Genome Biology·Jiqiu ChengYves Moreau
Aug 26, 2011·Hormone Research in Pædiatrics·Antoinet C J Gijsbers, Claudia A L Ruivenkamp
Aug 30, 2011·Trends in Genetics : TIG·Jason M Sheltzer, Angelika Amon

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Citations

Jun 30, 2016·World Journal of Stem Cells·Jorge Garcia-MartinezFloris Foijer
Jan 4, 2018·Nature Reviews. Clinical Oncology·Laurent SansregretCharles Swanton
Nov 22, 2017·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·Klaske M Schukken, Floris Foijer
May 29, 2018·Genes & Development·Michelle S Levine, Andrew J Holland
May 22, 2019·Genes·Ivan Y IourovSergei I Kutsev
Jun 19, 2019·BMC Bioinformatics·Daniel G PiquéJessica C Mar
Mar 27, 2021·Clinica Chimica Acta; International Journal of Clinical Chemistry·Xue BaiZhiwei Zhang

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