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Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization

Franki Speleman UGent, Juliaan Leroy, Nadine Van Roy UGent, Anne De Paepe UGent, R Suukerbuuk, J Brunner, L Looijenga, M Verschraegen-Spae and E Orye (1991) AMERICAN JOURNAL OF MEDICAL GENETICS. 41(3). p.381-387
abstract
The isochromosome 12p (i(12p)) in fibroblasts of 3 patients with Pallister-Killian syndrome and one deceased prematurely born neonate, was characterized by fluorescent in situ hybridization (FISH) using chromosome 12-specific DNA probes. FISH is a useful technique for rapid and reliable detection and characterization of the i(12p) chromosome in Pallister-Killian patients. Detection was possible also in interphase cells. In addition, the in vitro selection against i(12p) cells at different passages in fibroblast cultures of two patients was monitored.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
FIBROBLAST CULTURES, DIGOXIGENIN, MOSAIC TETRASOMY 12P, CHROMOSOME-ABERRATIONS, DIAGNOSIS, LOCALIZATION, ANEUPLOIDY, NUCLEI, TUMORS, I(12P), CHROMOSOME-12, TETRASOMY-12P, BIOTIN
journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
Am. J. Med. Genet.
volume
41
issue
3
pages
381 - 387
Web of Science type
Article
ISSN
0148-7299
DOI
10.1002/ajmg.1320410321
language
English
UGent publication?
yes
classification
A1
id
223846
handle
http://hdl.handle.net/1854/LU-223846
date created
2004-05-24 13:24:00
date last changed
2016-12-19 15:38:49
@article{223846,
  abstract     = {The isochromosome 12p (i(12p)) in fibroblasts of 3 patients with Pallister-Killian syndrome and one deceased prematurely born neonate, was characterized by fluorescent in situ hybridization (FISH) using chromosome 12-specific DNA probes. FISH is a useful technique for rapid and reliable detection and characterization of the i(12p) chromosome in Pallister-Killian patients. Detection was possible also in interphase cells. In addition, the in vitro selection against i(12p) cells at different passages in fibroblast cultures of two patients was monitored.},
  author       = {Speleman, Franki and Leroy, Juliaan and Van Roy, Nadine and De Paepe, Anne and Suukerbuuk, R and Brunner, J and Looijenga, L and Verschraegen-Spae, M and Orye, E},
  issn         = {0148-7299},
  journal      = {AMERICAN JOURNAL OF MEDICAL GENETICS},
  keyword      = {FIBROBLAST CULTURES,DIGOXIGENIN,MOSAIC TETRASOMY 12P,CHROMOSOME-ABERRATIONS,DIAGNOSIS,LOCALIZATION,ANEUPLOIDY,NUCLEI,TUMORS,I(12P),CHROMOSOME-12,TETRASOMY-12P,BIOTIN},
  language     = {eng},
  number       = {3},
  pages        = {381--387},
  title        = {Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization},
  url          = {http://dx.doi.org/10.1002/ajmg.1320410321},
  volume       = {41},
  year         = {1991},
}

Chicago
Speleman, Franki, Juliaan Leroy, Nadine Van Roy, Anne De Paepe, R Suukerbuuk, J Brunner, L Looijenga, M Verschraegen-Spae, and E Orye. 1991. “Pallister-Killian Syndrome: Characterization of the Isochromosome 12p by Fluorescent in Situ Hybridization.” American Journal of Medical Genetics 41 (3): 381–387.
APA
Speleman, F., Leroy, J., Van Roy, N., De Paepe, A., Suukerbuuk, R., Brunner, J., Looijenga, L., et al. (1991). Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization. AMERICAN JOURNAL OF MEDICAL GENETICS, 41(3), 381–387.
Vancouver
1.
Speleman F, Leroy J, Van Roy N, De Paepe A, Suukerbuuk R, Brunner J, et al. Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization. AMERICAN JOURNAL OF MEDICAL GENETICS. 1991;41(3):381–7.
MLA
Speleman, Franki, Juliaan Leroy, Nadine Van Roy, et al. “Pallister-Killian Syndrome: Characterization of the Isochromosome 12p by Fluorescent in Situ Hybridization.” AMERICAN JOURNAL OF MEDICAL GENETICS 41.3 (1991): 381–387. Print.