About: High resolution comparative genomic hybridisation analysis for detecting small constitutional chromosome abnormalities

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An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Comparative genomic hybridization (CGH) is a molecular cytogentic technique that can characterize excess and missing cytogenetic materiál often unrecognizable by G-banding. Recently, CGH has been further improved as high-resolution CGH which may detect aberrations down to 3-5 Mb and enhance the sensitivity in the detection of aberrations. Although the major application of CGH has been in the field of cancer genetics, the utilization of CGH as a tool in clinical cytogenetics is also increasing. In clinical cytogenetics CGH has been particularly useful by facilitating the identification and characterization of intrachromosomal duplication, deletions, unbalanced translocations and maker chromosomes. We here report the application of the recently developed metod of high resolution CGH (HR-CGH) for clarification of small terminal imbalances in 4 patients with abnormal karyotypes and dysmorphic features. Comparative genomic hybridization (CGH) is a molecular cytogentic technique that can characterize excess and missing cytogenetic materiál often unrecognizable by G-banding. Recently, CGH has been further improved as high-resolution CGH which may detect aberrations down to 3-5 Mb and enhance the sensitivity in the detection of aberrations. Although the major application of CGH has been in the field of cancer genetics, the utilization of CGH as a tool in clinical cytogenetics is also increasing. In clinical cytogenetics CGH has been particularly useful by facilitating the identification and characterization of intrachromosomal duplication, deletions, unbalanced translocations and maker chromosomes. We here report the application of the recently developed metod of high resolution CGH (HR-CGH) for clarification of small terminal imbalances in 4 patients with abnormal karyotypes and dysmorphic features. (en)
Title	High resolution comparative genomic hybridisation analysis for detecting small constitutional chromosome abnormalities High resolution comparative genomic hybridisation analysis for detecting small constitutional chromosome abnormalities (en)
skos:prefLabel	High resolution comparative genomic hybridisation analysis for detecting small constitutional chromosome abnormalities High resolution comparative genomic hybridisation analysis for detecting small constitutional chromosome abnormalities (en)
skos:notation	RIV/00216224:14310/05:00014609!RIV10-MSM-14310___
http://linked.open...avai/riv/aktivita	Z
http://linked.open...avai/riv/aktivity	Z(MSM0021622415)
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Vranová, Vladimíra Kuglík, Petr Žežulková, Dita Pešáková, Martina
http://linked.open.../riv/druhVysledku	D - Článek ve sborníku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Masarykova univerzita / Přírodovědecká fakulta
http://linked.open...dnocenehoVysledku	523268
http://linked.open...ai/riv/idVysledku	RIV/00216224:14310/05:00014609
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	HR-CGH; FISH; spectral karyotyping; constitutional chromosome aberrations (en)
http://linked.open.../riv/klicoveSlovo	FISH HR-CGH constitutional chromosome aberrations spectral karyotyping
http://linked.open...ontrolniKodProRIV	[8C9D5343CE62]
http://linked.open...v/mistoKonaniAkce	Praha
http://linked.open...i/riv/mistoVydani	Praha
http://linked.open...i/riv/nazevZdroje	European Journal of Human Genetics
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	4 (xsd:int)
http://linked.open...cetTvurcuVysledku	8 (xsd:int)
http://linked.open...UplatneniVysledku	2005
http://linked.open...iv/tvurceVysledku	Gaillyová, Renata Kuglík, Petr Slámová, Iva Vranová, Vladimíra Oltová, Alexandra Vilémová, Marcela Pešáková, Martina Žežulková, Dita
http://linked.open...vavai/riv/typAkce	EUR - Evropská
http://linked.open.../riv/zahajeniAkce	2005-01-01 (xsd:date)
http://linked.open...n/vavai/riv/zamer	Molecular basis of cell and tissue regulations
issn	1018-4813
number of pages	1 (xsd:int)
http://purl.org/ne...btex#hasPublisher	Nature Publishing Group
http://localhost/t...ganizacniJednotka	14310
is http://linked.open...avai/riv/vysledek of	High resolution comparative genomic hybridisation analysis for detecting small constitutional chromosome abnormalities

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