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Description
| - Balancované translokace jsou spojeny s infertilitou, spontánními aborty a vrozenými defekty. Referujeme o analýze meiotické segregace a aneuploidií chromosomů X, Y, 7, 8 a 21 ve spermiích 3 nositelů 2 různých t(11;18) mnohobarevnou FISH. Nejčastěji byla pozorována alternativní segregace a dále segregace typu 1, typu 2 a 3:1. Nositelé stejné translokace se lišili ve frekvenci segregace typu 2. Nositel odlišné translokace vykazoval více produktů alternativní segregace a méně typu 1 a 3:1. Ve srovnání s kontrolami byla pozorována zvýšená frekvence XY, YY a diploidních spermií, což bylo způsobeno jejich vysokou frekvencí u dvou z nositelů translokací. Incidence abnormálních gamet se liší u jednotlivých nositelů translokací, i když jsou u nich v translokaci zahrnuty stejné chromosomy. (cs)
- Balanced translocations are associated with infertility, spontaneous abortions and birth defects. We report the analysis, by multicolour fluorescence in situ hybridization (FISH), of meiotic segregation and aneuploidy of chromosomes X, Y, 7, 8 and 21 in sperm from three carriers of two different t(11;18). The prevalence of alternate segregation followed by adjacent 1, adjacent 2, and 3:1 was observed in all three patients. Two carriers of the same translocation differed only in the frequency of adjacent 2 segregation. The carrier of the other translocation showed significantly higher frequency of alternate and less adjacent 1 and 3:1 segregation products. An increased frequency of XY, YY and diploid sperm was detected in the group of translocation carriers compared to controls. This was caused by elevated frequencies of disomy and diploidy in two of our carriers. The incidence of abnormal gametes varies in the individual carriers even if the same chromosomes are included in the translocation.
- Balanced translocations are associated with infertility, spontaneous abortions and birth defects. We report the analysis, by multicolour fluorescence in situ hybridization (FISH), of meiotic segregation and aneuploidy of chromosomes X, Y, 7, 8 and 21 in sperm from three carriers of two different t(11;18). The prevalence of alternate segregation followed by adjacent 1, adjacent 2, and 3:1 was observed in all three patients. Two carriers of the same translocation differed only in the frequency of adjacent 2 segregation. The carrier of the other translocation showed significantly higher frequency of alternate and less adjacent 1 and 3:1 segregation products. An increased frequency of XY, YY and diploid sperm was detected in the group of translocation carriers compared to controls. This was caused by elevated frequencies of disomy and diploidy in two of our carriers. The incidence of abnormal gametes varies in the individual carriers even if the same chromosomes are included in the translocation. (en)
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Title
| - Sperm fluorescence in situ hybridization study of meiotic segregation and an interchromosomal effect in carriers of t(11;18)
- Sperm fluorescence in situ hybridization study of meiotic segregation and an interchromosomal effect in carriers of t(11;18) (en)
- Meiotická segregace a interchromosomální efekt u nositelů translokace t(11;18) studované metodou Sperm FISH (cs)
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skos:prefLabel
| - Sperm fluorescence in situ hybridization study of meiotic segregation and an interchromosomal effect in carriers of t(11;18)
- Sperm fluorescence in situ hybridization study of meiotic segregation and an interchromosomal effect in carriers of t(11;18) (en)
- Meiotická segregace a interchromosomální efekt u nositelů translokace t(11;18) studované metodou Sperm FISH (cs)
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skos:notation
| - RIV/00027162:_____/08:#0000350!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
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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:#0000350
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http://linked.open...riv/jazykVysledku
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http://linked.open.../riv/klicovaSlova
| - sperm; meiotic segregation; reciprocal translocation; interchromosomal effect (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
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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
- Hořínová, V.
- Oráčová, Eva
- Vozdová, Miluše
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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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