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A stable density approach to probe selection for a custom aCGH design

100%
Gambin T., Stankiewicz P., Gambin A.
BioTechnologia
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2011
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issue 3
2

Supernumerary marker chromosomes characterized by fluorescence in situ hybridization (FISH)

76%
Bocian E., Stankiewicz P., Stanczak H., Obersztyn E., Korniszewski L., Mazurczak T.
Journal of Applied Genetics
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1996
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vol. 37
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issue 3
313-324
EN
Until recently marker chromosomes have presented a difficult diagnostic problem for cytogeneticists as well as for clinicians.Introducing of FISH to cytogenetic analysis has enabled identification of their origin giving possibility to outline specific phenotypic effect of defined marker chromosomes.Nine marker chromosomes were analysed with FISH using centromeric probes, chromosome-specific libraries and unique DNA sequences probes for PWS/AS critical region.The origin from acrocentric chromosomes was established in 6 cases.One marker was a product of maternal 11;22 translocation and two others were pericentromeric regions of chromosome 2 and 4.Among 6 markers, derived from acrocentric chromosomes, 2 consisted of pericentromeric part of chromosome 15, one was identified as mar (21) and in 3 other cases the origin could not be differentiated between chromomsomes including the risk for chromomsomal nondisjunction and trisomy 21 as well as the risk uniparental disomy (UPD) are discussesd.
3

Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients

52%
Pietrzak J., Mrasek K., Obersztyn E., Stankiewicz P., Kosyakova N., Weise A., Cheung S. W., Ca W. W., vo_ E. F., Mazurczak T., Bocian E., Liehr T.
Journal of Applied Genetics
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2007
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vol. 48
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issue 2
167-175
EN
Small supernumerary marker chromosomes (sSMCs) are a morphologically heterogeneous group of additional structurally abnormal chromosomes that cannot be identified unambiguously by conventional banding techniques alone. Molecular cytogenetic methods enable detailed characterization of sSMCs; however, in many cases interpretation of their clinical significance is problematic. The aim of our study was to characterize precisely sSMCs identified in three patients with dysmorphic features, psychomotor retardation and multiple congenital anomalies. We also attempted to correlate the patients' genotypes with phenotypes by inclusion of data from the literature. The sSMCs were initially detected by G-banding analysis in peripheral blood lymphocytes in these patients and were subsequently characterized using multicolor fluorescence in situ hybridization (M-FISH), (sub)centromere-specific multicolor FISH (cenM-FISH, subcenM-FISH), and multicolor banding (MCB) techniques. Additionally, the sSMCs in two patients were also studied by hybridization to whole-genome bacterial artificial chromosome (BAC) arrays (array-CGH) to map the breakpoints on a single BAC clone level. In all three patients, the chromosome origin, structure, and euchromatin content of the sSMCs were determined. In patient RS, only a neocentric r(2)(q35q36) was identified. It is a second neocentric sSMC(2) in the literature and the first marker chromosome derived from the terminal part of 2q. In the other two patients, two sSMCs were found, as M-FISH detected additional sSMCs that could not be characterized in G-banding analysis. In patient MK, each of four cell lines contained der(4)(:p11.1->.q12:) accompanied by a sSMC(18): r(18)(:p11.2->q11.1::p11.2->q11.1:), inv dup(18)(:p11.1->q11.1::q11.1->p11.1:), or der(18) (:p11.2->q11.1::q11.1->p11.1:). In patient NP, with clinical features of trisomy 8p, three sSMCs were characterized: r(8)(:p12->q11.1::q11.1->p21:) der(8) (:p11.22->q11.1::q11.1->p21::p21->p11.22:) and der(21)(:p11.1->q21.3:). The BAC array results confirmed the molecular cytogenetic results and refined the breakpoints to the single BAC clone resolution. However, the complex mosaic structure of the marker chromosomes derived from chromosomes 8 and 18 could only be identified by molecular cytogenetic methods. This study confirms the usefulness of multicolor FISH combined with whole-genome arrays for comprehensive analyses of marker chromosomes.
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