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| rdf:type
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| Description
| - A polymorphic signal was detected in preimplantation genetic diagnosis (PGD) for aneuploidy, in a patient with repeated early miscarriages. A third small signal of chromosome 18 alpha-satellite probe was observed in two of four evaluated embryos. Hybridization to female partner's metaphasic lymphocytes revealed that the small signal is localized in the pericentromeric region of chromosome 1. Reanalysis of blastomeres with telomeric probes for chromosome 18q confirmed presence of only two copies of chromosome 18. Possibilities to verify PGD analysis results, to prevent misdiagnosis in the cases of suspected polymorphism, are discussed here. This rare polymorphism of 18 alpha-satellite sequences is in itself probably a normal variant. This is the third report of a cross-hybridization of the chromosome 18 alpha-satellite probe and the first report of the localization of the polymorphic 18 alpha-satellite signal to chromosome 1.
- A polymorphic signal was detected in preimplantation genetic diagnosis (PGD) for aneuploidy, in a patient with repeated early miscarriages. A third small signal of chromosome 18 alpha-satellite probe was observed in two of four evaluated embryos. Hybridization to female partner's metaphasic lymphocytes revealed that the small signal is localized in the pericentromeric region of chromosome 1. Reanalysis of blastomeres with telomeric probes for chromosome 18q confirmed presence of only two copies of chromosome 18. Possibilities to verify PGD analysis results, to prevent misdiagnosis in the cases of suspected polymorphism, are discussed here. This rare polymorphism of 18 alpha-satellite sequences is in itself probably a normal variant. This is the third report of a cross-hybridization of the chromosome 18 alpha-satellite probe and the first report of the localization of the polymorphic 18 alpha-satellite signal to chromosome 1. (en)
- Polymorfní signál byl detekován při preimplantační benetické diagnostice (PGD) aneuploidií u pacientky s opakovanými časnými potraty. Třetí malý signál alfa-satelitní sondy pro chromosom 1 byl pozorován ve dvou ze čtyř hodnocených embryí. Hybridizace s metafázními chromosomy ženy odhalila, že třetí malý signál je lokalizován v pericentromerické oblasti chromosomu 1. Reanalýza blastomer s telomerickými sondami pro chromosom 18q potvrdila přítomnost pouze dvou kopií chromosomu 18. V článku diskutujeme možnosti ověření výsledků PGD analýzy, které by zabránily nesprávné diagnóze v případech podezření na polymorfismus. Tento vzácný polymorfismus 18 alfa-satelitních sekvencí lze zřejmě považovat za normální variantu. Toto je třetí zpráva o hybridizaci 18 alfa-satelitní sondy na nespecifický chromosom a první zpráva o lokalizaci polymorfního 18 alfa-satelitního signálu na chromosom 1. (cs)
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| Title
| - Hybridization of the 18 alpha-satellite probe to chromosome 1 revealed in PGD
- Hybridization of the 18 alpha-satellite probe to chromosome 1 revealed in PGD (en)
- Hybridizace 18 alfa-satelitní sondy na chromosom 1 zjištěná při PGD (cs)
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| skos:prefLabel
| - Hybridization of the 18 alpha-satellite probe to chromosome 1 revealed in PGD
- Hybridization of the 18 alpha-satellite probe to chromosome 1 revealed in PGD (en)
- Hybridizace 18 alfa-satelitní sondy na chromosom 1 zjištěná při PGD (cs)
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| skos:notation
| - RIV/00027162:_____/08:#0000405!RIV09-MZE-00027162
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| http://linked.open...avai/riv/aktivita
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| http://linked.open...avai/riv/aktivity
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| http://linked.open...iv/cisloPeriodika
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| http://linked.open...vai/riv/dodaniDat
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| http://linked.open...aciTvurceVysledku
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| http://linked.open.../riv/druhVysledku
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| http://linked.open...iv/duvernostUdaju
| |
| http://linked.open...titaPredkladatele
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| http://linked.open...dnocenehoVysledku
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| http://linked.open...ai/riv/idVysledku
| - RIV/00027162:_____/08:#0000405
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| http://linked.open...riv/jazykVysledku
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| http://linked.open.../riv/klicovaSlova
| - preimplantation genetic diagnosis (PGD); chromosome 18; chromosome 1; alpha-satellite; FISH; polymorphism (en)
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| http://linked.open.../riv/klicoveSlovo
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| http://linked.open...odStatuVydavatele
| - GB - Spojené království Velké Británie a Severního Irska
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| http://linked.open...ontrolniKodProRIV
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| http://linked.open...i/riv/nazevZdroje
| - Reproductive BioMedicine Online
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| http://linked.open...in/vavai/riv/obor
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| http://linked.open...ichTvurcuVysledku
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| http://linked.open...cetTvurcuVysledku
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| http://linked.open...UplatneniVysledku
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| http://linked.open...v/svazekPeriodika
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| http://linked.open...iv/tvurceVysledku
| - Rubeš, Jiří
- Oráčová, Eva
- Rybář, Roman
- Musilová, Petra
- Veselá, K.
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| http://linked.open...ain/vavai/riv/wos
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| http://linked.open...n/vavai/riv/zamer
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| issn
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| number of pages
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| is http://linked.open...avai/riv/vysledek
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