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Limitations of chromosome classification by multicolor karyotyping

Lee, Charles; Gisselsson Nord, David LU ; Jin, Charlotte LU ; Nordgren, Ann; Ferguson, David O.; Blennow, Elisabeth; Fletcher, Jonathan A. and Morton, Cynthia C. (2001) In American Journal of Human Genetics 68(4). p.1043-1047
Abstract
Multicolor karyotyping technologies, such as spectral karyotyping (SKY) (Schrock et al.1996; Liyanage et al. 1996) and multiplex (M-) FISH (Speicher et al. 1996), have proved to be extremely useful in prenatal, postnatal, and cancer cytogenetics. However, these technologies have inherent limitations that, in certain situations, may result in chromosomal misclassification. In this report, we present nine cases, which fall into five categories, in which multicolor karyotyping has produced erroneous interpretations. Most errors appear to have a similar mechanistic basis.
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
American Journal of Human Genetics
volume
68
issue
4
pages
1043 - 1047
publisher
Cell Press
external identifiers
  • pmid:11222105
  • scopus:0035074295
ISSN
0002-9297
DOI
10.1086/319503
language
English
LU publication?
yes
id
140b2ec4-4f72-4592-9c3f-e01995fcc2ca (old id 1121774)
date added to LUP
2008-07-03 09:55:10
date last changed
2018-05-29 11:45:38
@article{140b2ec4-4f72-4592-9c3f-e01995fcc2ca,
  abstract     = {Multicolor karyotyping technologies, such as spectral karyotyping (SKY) (Schrock et al.1996; Liyanage et al. 1996) and multiplex (M-) FISH (Speicher et al. 1996), have proved to be extremely useful in prenatal, postnatal, and cancer cytogenetics. However, these technologies have inherent limitations that, in certain situations, may result in chromosomal misclassification. In this report, we present nine cases, which fall into five categories, in which multicolor karyotyping has produced erroneous interpretations. Most errors appear to have a similar mechanistic basis.},
  author       = {Lee, Charles and Gisselsson Nord, David and Jin, Charlotte and Nordgren, Ann and Ferguson, David O. and Blennow, Elisabeth and Fletcher, Jonathan A. and Morton, Cynthia C.},
  issn         = {0002-9297},
  language     = {eng},
  number       = {4},
  pages        = {1043--1047},
  publisher    = {Cell Press},
  series       = {American Journal of Human Genetics},
  title        = {Limitations of chromosome classification by multicolor karyotyping},
  url          = {http://dx.doi.org/10.1086/319503},
  volume       = {68},
  year         = {2001},
}