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1

Identification of three different chromosomal additions by chromosome painting using fluorescence in situ hybridization (FISH) technique

100%
Bocian E., Stanczak H., Obersztyn E., Mazurczak T.
Journal of Applied Genetics
|
1996
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vol. 37
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issue 2
197-204
EN
Fluorescence in situ hybridization (FISH) is a very useful method for assessing chromosome rearrangements.When neither banding pattern nor clinical symptoms are sufficient to determine the origin of additoinal chromosomal fragments, FISH with multiple chromosome-specific libraries allows to solve this diagnostic problem rapidly.Three chromosomal additions, 7q+, 13p+ and 22 q+, found in routine cytogenetic studies performed in children with phenotypic abnormalities were analysed using FISH.This technique documented the origin of extra matrial to be derived from chromosome 16[der(7)t(7;16)(q36.3;p13.110], 18[der(13)t(13;18)(p12;q12.2)] and 22[dup(22)(q11.2q13.1)], repectively.In two cases the abnormality arose de novo, while in the third case the product of translocation t(13;18) was ,matrnal by origin.It was present in 30% of mother's lymphocytes, and in 70% of them a balanced Robertsonian translocation t(13q;15q) was found.In the present cases the chromosome analysis with both traditional banding and chromosome painting techniques, allowed to establish final clinical diagnosis.
2

Relationship between molecular, cytogenetic and clinical parameters in 63 individuals with full mutation in FMR1 gene.

88%
Milewski M., Bal J., Bocian E., Obersztyn E., Mazurczak T.
Journal of Applied Genetics
|
1996
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vol. 37
|
issue 2
205-215
EN
Relationship between selected molecular, cytogenetic and clinical parameters was analysed in a group of 63 individuals (45 males and 18 females) with full fragile X mutation.Significant correlation between the size and somatic instability of fully mutated alleles in both males and females was found.Possible explanations of this result are discussed.With respect to the mutation size, an apparent difference was observed between males with different degree of mental retardation.No such difference appeared when affected and normal females with full mutation were compared.The proportion of mutated active X chromosome was significantly higher in mentally retarded females than those without any mantal impairment.
3

Recombination aneusomy of subtelomeric regions of chromosome 5, resulting from a large familial pericentric inversion inv(5)(p15.33q35.3)

88%
Bocian E., Suchenek K., Obersztyn E., Nowakowska B., Mazurczak T.
Journal of Applied Genetics
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2005
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vol. 46
|
issue 1
109-114
EN
We present a family with three cases of recombination aneusomy rec(5)dup(5q) originating from a large parental pericentric inversion of chromosome 5. The proband ? a 6-year-old girl with mental retardation, speech delay, microcephaly, and slight facial dysmorphism ? was referred for subtelomere testing. FISH with a Multiprobe Chromoprobe T System (CytoCell) and with several BAC clones mapping to both subtelomere regions of chromosome 5, revealed a recombinant chromosome rec(5)dup(5q) originating from a paternal pericentric inversion inv(5)(p15.33q35.3). The same inversion was present in the proband's father's twin-brother and rec(5)dup(5q) was also identified in his two mentally retarded daughters. The distance of breakpoints from the telomere was: 0.234?1.4 Mb for 5p and 4.1?4.8 Mb for 5q. HR-CGH analysis confirmed the duplication of the 5q subtelomeric region but did not identify any concomitant deletion in the 5p subtelomere. Precise mapping of the aneusomic regions in the proband enabled mapping the cat cry and speech delay to 5p15.33, making the earlier localizations of these features more precise. Our family shows that the large pericentric inversion with both breakpoints at subtelomeric regions of chromosome 5 is associated with a high risk of rec(5)dup(5q) in the progeny.
4

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
|
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.
5

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
|
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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