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1

The influence of calyculin A on lymphocytes in vitro

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Kowalska A., Srebniak M., Wawrzkiewicz A., Kaminski K.
Journal of Applied Genetics
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2003
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vol. 44
|
issue 3
413-418
EN
Human lymphocytes were cultured in vitro and treated with calyculin A. The aim of this work was to estimate the influence of calyculin A on chromosome morphology and banding patterns. It was also interesting whether calyculin A treatment is useful in cytogenetic analysis of human karyotype. We proved that calyculin A induces chromosome condensation in lymphocytes and raises the mitotic index significantly. Moreover, calyculin A does not influence the banding patterns. Therefore it is concluded that calyculin A can be clinically useful for human karyotyping.
2

Cytogenetic analysis of an asymmetric potato hybrid

100%
Srebniak M., Rasmussen O., Maluszynska J.
Journal of Applied Genetics
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2002
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vol. 43
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issue 1
19-31
EN
An asymmetric potato hybrid and its parental lines were cytogenetically examined. DAPI (4?-6-diamidino-2-phenylindole) staining was used to count chromosomes in all analysed lines and revealed the presence of minichromosomes in the hybrid genome. Fluorescent in situ hybridization (FISH) with rDNA sequence as a probe helped to determine the ploidy level of analysed lines and revealed that none of the minichromosomes contains rDNA repeats. CMA (chromomycin A3) band occurred to be a new chromosome marker that identifies potato chromosome No.1. It was possible to detect a deletion in one of four chromosomes No. 1 of the asymmetric potato hybrid. On the basis of these analyses a karyotype of the asymmetric hybrid was constructed.
3

Chromosome abnormalities without phenotypic consequences

100%
Kowalczyk M., Srebniak M., Tomaszewska A.
Journal of Applied Genetics
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2007
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vol. 48
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issue 2
157-166
EN
Some changes in chromosome morphology, detected during cytogenetic analysis, are not associated with clinical defects. Therefore a proper discrimination of harmless variants from true abnormalities, especially during prenatal diagnosis, is crucial to allow precise counseling. In this review we described chromosome variants and examples of chromosome anomalies that are considered to be unrelated to phenotypic consequences. The correlation between the presence of marker chromosomes and a risk of clinical signs is also discussed. Structural rearrangements of heterochromatic material, satellite polymorphism, or fragile sites, are well-known examples of common chromosome variation. However, the absence of clinical effects has also been reported in some cases of chromosome abnormalities concerning euchromatin. Such euchromatic anomalies were divided into 2 categories: unbalanced chromosome abnormalities (UBCAs), such as deletions or duplications, and euchromatic variants (EVs). Recently so-called molecular karyotyping, especially whole-genome screening by the use of high-resolution array-CGH technique, contributed to revealing a high number of previously unknown small genomic variations, which seem to be asymptomatic, as they are present in phenotypically normal individuals.
4

Subfertile couple with inv(2),inv(9) and 16qh+

88%
Srebniak M., Wawrzkiewicz A., Wiczkowski A., Kazmierczak W., Olejek A.
Journal of Applied Genetics
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2004
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vol. 45
|
issue 4
473-476
EN
This case report presents two chromosomal inversions in one of partners from a subfertile couple. The woman was referred due to a spontaneous abortion in the 5th week of pregnancy. Cytogenetic examination showed that the proband's karyotype was normal: 46,XX,16qh+, as centromeric heterochromatin is thought to be clinically insignificant. However, the proband's partner occurred to be a carrier of two pericentric inversions. His karyotype was 46,XY,inv(2)(p11q13),inv(9)(p11q13). The abnormal karyotype is recognised as a possible reason of fertility problems in the investigated couple. The risk of further miscarriages is considered high, but the risk of progeny with abnormal karyotypes is rather low, as small inversions may lead to lethal recombinants.
5

Subfertile couple with t(4;22)(q23;q11.2)

88%
Srebniak M., Popowska L., Wawrzkiewicz-Witkowska A., Tomaszewska A., Kazmierczak W.
Journal of Applied Genetics
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2005
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vol. 46
|
issue 3
333-336
EN
A couple was referred for cytogenetic examination due to idiopathic miscarriages. The proband proved to be a carrier of chromosomal translocation and her partner's karyotype was found to be normal. The karyotype of the proband is 46,XX,t(4;22)(q23;q11.2) and can be regarded as a reason of fertility problems in the investigated couple. The risk of further miscarriages is high, but the risk of a progeny with abnormal karyotype is rather low, as the progeny would probably have lethal imbalances.
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