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1

A 9p13p24 duplication coupled with a whole 22q translocation onto 9p24

100%
Rivera H., Vasquez-Velsquez A. I., de L. R.-D. M., Becerra-Solano L. E.
Journal of Applied Genetics
|
2007
|
vol. 48
|
issue 1
95-98
EN
We report on a 3-year-old girl with a typical 9p trisomy syndrome, whose 45-chromosome karyotype includes a 9p+. As assessed by G, C and Ag-NOR bands, the rearranged chromosome resulted from a 9p13p24 direct duplication coupled with a translocation of the whole 22q onto 9pter, had heterochromatin at the junction site, lacked both nucleolar organizing regions (NORs) and centromere dots at the unconstricted fusion point, and was present in all metaphases scored. FISH results: a 9p subtelomere probe gave a diminished signal on the 9p+ precisely at the duplication junction 9p24::9p13, but no labeling was observed at the 9;22 translocation site; a pancentromeric alphoid probe labeled all centromeres, and gave a distinct signal at the 9pter;22cen junction. Hence, her karyotype was 45,XX,rea(9;22)(9qter9p24::9p139p24::22p1022qter).ish rea(9;22) (9psubtel+dim,pancen+). Parental chromosomes were normal. The distinctiveness of the present centromere-telomere fusion rests on the coupling of an intrachromosomal distal duplication with a whole-arm translocation including alphoid DNA onto the duplicated segment. The centromeric inertia of the residual alphoid DNA in the present case compares with the variable functional status of the chromosome 22 centromere in true heterodicentrics involving such a chromosome.
2

A 9p13->p24 duplication coupled with a whole 22q translocation onto 9p24

100%
Rivera H., Vasquez-Velasquez A.
Journal of Applied Genetics
|
2007
|
vol. 48
|
issue 3
95-98
EN
We report on a 3-year-old girl with a typical 9p trisomy syndrome, whose 45-chromosome karyotype includes a 9p+. As assessed by G, C and Ag-NOR bands, the rearranged chromosome resulted from a 9p13p24 direct duplication coupled with a translocation of the whole 22q onto 9pter, had heterochromatin at the junction site, lacked both nucleolar organizing regions (NORs) and centromere dots at the unconstricted fusion point, and was present in all metaphases scored. FISH results: a 9p subtelomere probe gave a diminished signal on the 9p+ precisely at the duplication junction 9p24::9p13, but no labeling was observed at the 9;22 translocation site; a pancentromeric alphoid probe labeled all centromeres, and gave a distinct signal at the 9pter;22cen junction. Hence, her karyotype was 45,XX,rea(9;22)(9qter9p24::9p139p24::22p1022qter).ish rea(9;22) (9psubtel+dim,pancen+). Parental chromosomes were normal. The distinctiveness of the present centromere-telomere fusion rests on the coupling of an intrachromosomal distal duplication with a whole-arm translocation including alphoid DNA onto the duplicated segment. The centromeric inertia of the residual alphoid DNA in the present case compares with the variable functional status of the chromosome 22 centromere in true heterodicentrics involving such a chromosome.
3

DNA methylation analysis of a de novo balanced X;13 translocation in a girl with abnormal phenotype: evidence for functional duplication of the whole short arm of the X chromosome

70%
Myszka A., Karpinski P., Makowska I., Lassota M., Przelozna B., Slezak R., Sasiadek M. M.
Journal of Applied Genetics
|
2010
|
vol. 51
|
issue 3
331-335
EN
We report on a 13-month-old girl showing dysmorphic features and a delay in psychomotor development. She was diagnosed with a balanced de novo translocation 46,X,t(X;13)(p11.2;p13) and non-random inactivation of the X chromosome. FISH analysis, employing the X chromosome centromere and XIST-region-specific probes, showed that the XIST locus was not involved in the translocation. Selective inactivation of paternal X, which was involved in translocation, was revealed by the HUMARA assay. The pattern of methylation of 5 genes located within Xp, which are normally silenced on an inactive X chromosome, corresponded to an active (unmethylated) X chromosome. These results revealed that in our proband the X chromosome involved in translocation (Xt) was preferentially inactivated. However, genes located on the translocated Xp did not include XIST. This resulted in functional Xp disomy, which most probably accounts for the abnormal phenotype in our patient.
4

The course of meiosis, pollen fertility and seed setting in barley lines with duplications in chromosomes 6 and 7

61%
Sodkiewicz T., Sodkiewicz W.
Genetica Polonica
|
1994
|
vol. 35
|
issue 4
231-240
EN
The aim of the present study was to find the reasons a low fertility of plants with duplicated segments of the short arms of satellited chromosomes.An attempt was made to determine the influence of duplicated segments of different size on the course of meiotic division, pollen stainability and viability as well as to evaluate the influence of these traits on seed setting in barley lines carrying duplications.Material for the study were spring barley (Hordeum vulgaris) lines, derived from the cv.Bonus with structural changes in chromosomes 6 and 7.It was found that percentage of bivalents formed in the course of meiotic division is correlated with the size of a duplicated sector.The formation of quadrivalent chromosome linkages in the course of meiosis was observed in the lines with duplications, and the number of quadrivalents per cell increased with an enlarged size of a duplicated chromosome sector.Seed setting in the lines carrying duplications may be negatively affected by a small amount of pollen grains in the anthers.Per cent of fertile flowers in the group of lines with duplications was not directly correlated either with per cent of viable pollen grains or with the size of a duplicated sector.
5

Expression of duplicated segments of satellited chromosomes in spring barley (Hordeum vulgare L.)

61%
Sodkiewicz T.
|
|
vol. 34
|
issue 3
223-236
EN
Barley lines with different size of of the short arms of the chromosome 6 and 7 were investigated under greenhouse and field conditions. The objective of the study were morphological features plant fertility and their dependence on the size of a duplicated segment of chromosome and on conditions of plant growth and development. Generally, duplicated lines under field conditions were observed to have a reduced stem lenght, spike size and spike fertility. The largest reduction of all the studied morphological features occurred in the line 9D with the largest duplicated segments, wheras the smallest differences compared to the normal karyotype were in the line 7D with the smallest duplicated segments. It was found that a bigger duplicated segment made large differences in parameters of morphological features manifested under various growth conditions (particularly in plant height). The results indicate that fertility and investigated morpholofgical features of plants with duplicated chromosome segments are affected not only by the absolute amount of genetic material, but also by the structure of translocated chromosomes building up individual karyotypes.
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