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

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Organization
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.
Keywords
FIBROBLAST CULTURES, DIGOXIGENIN, MOSAIC TETRASOMY 12P, CHROMOSOME-ABERRATIONS, DIAGNOSIS, LOCALIZATION, ANEUPLOIDY, NUCLEI, TUMORS, I(12P), CHROMOSOME-12, TETRASOMY-12P, BIOTIN

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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, Franki, 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.
@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},
}

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