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Ataksja Friedreicha - zastosowanie różnych metod opartych na technice PCR w diagnostyce molekularnej ekspansji powtórzeń [GAA]n

100%

Hoffman-Zacharska D., Mazurczak T.

Diagnostyka Laboratoryjna

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2008

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tom 44

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nr 4

2

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Indentification of three different chromosomal additions by chromosome painting using fluorescence in situ hybridization [FISH] technique

85%

Bocian E., Stankiewicz P., Stanczak H., Obersztyn E., Mazurczak T., Mazurczak T.

Journal of Applied Genetics

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1996

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tom 37

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nr 2

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 additional chromosomal fragment, FISH with multiple chromosome-specific libraries (chromosome painting), allows to solve this diagnostic problem rapidly. Three chromosomal additions, 7q+, 13p+ and 22q+, found in routine cytogenetic studies performed in children with phenotypic abnormalities were analysed using FISH. This technique documented the origin of the extra material to be derived from chromosome 16[der(7)t(7; 16)(q36.3;p 13.11)], 18[der(13)t(13; 18)(p12;q 12.2)] and 22[dup(22)(q11.2q13.1)], respectively. In two cases the abnormality arose de novo, while in the third case the product of translocation t(13;18) was maternal 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 presented cases the chromosome analysis with both traditional banding and chromosome painting techniques, allowed to establish final clinical diagnosis.

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Ocena jakości cytogenetycznych badań diagnostycznych według kryteriów brytyjskiego systemu kontroli UK NEQAS. Analiza wyników uzyskanych w latach 1996-1999

81%

Bocian E., Jakubow-Durska K., Mazurczak T.

Diagnostyka Laboratoryjna

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2000

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tom 36

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nr 3

4

The frequency of mutations in Exon 11 of the CF gene in Polish cystic fibrosis patients

80%

Bal J., Mazurczak T., Reiss J.

Acta Biochimica Polonica

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1992

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tom 39

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nr 3

Results of mutation analysis in exon II of the CF gene have been presented. Using the SSCI' technique 18 mutations (of four different types) were detected in cystic fibrosis patients of Polish origin. Thus, we were able to detect in exon 11 about 10% of all CF mutations occuring in the affected population examined.

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

71%

Milewski M., Bal J., Bocian E., Obersztyn E., Mazurczak T.

Journal of Applied Genetics

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1996

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tom 37

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nr 2

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 in those without any mental impairment.

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Recombination aneusomy of subtelomeric regions of chromosome 5, resulting from a large familial pericentric inversion invInstitute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland[p15.33q35.3]

71%

Bocian E., Suchenek K., Obersztyn E., Nowakowska B., Mazurczak T.

Journal of Applied Genetics

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2005

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tom 46

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nr 1

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.

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Molecular versus classical cytogenetics - evaluation of 20 Prader-Willi syndrome patients

61%

Stankiewicz P., Lebiocka J., Szpecht-Potocka A., Bocian E., Stanczak H., Obersztyn E., Mazurczak T.

Journal of Applied Genetics

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1997

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tom 38

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nr 2

Prader-Willi syndrome (PWS) is a developmental disorder caused by a deficiency of paternal contribution of the chromosome region 15q11.2-q13 arising from differently sized deletions, maternal disomy, or rarely imprinting mutations. We have analyzed 20 PWS patients using combined cytogenetic high resolution technique (HRT), fluorescence in situ hybridization (FISH) and molecular studies to identify parental origin (uniparental disomy) or molecular defect (deletion) of the Prader-Willi region. Lack of a paternal copy of 15q11.2-q13 resulting from its deletion was found in 16 patients. Using high resolution GTG banding on prometaphase chromosomes, deletion in the 15q11.2-q13 region was detected in only 8 patients. Application of FISH with different sets of PWS specific unique sequence probes (D15S11, SNRPN, D15S10, GABRß3) revealed microdeletions in 12 patients. In 12 out of 20 cases FISH confirmed HRT studies, while in 8 cases inconsistent results were obtained. No discrepancies between results of FISH and molecular studies were found, although the latter had a higher sensitivity. We conclude that FISH appears to be a rapid and reliable method of microdeletion identification and should be performed as a method of choice in cytogenetic diagnosis of Prader-Willi syndrome.

8

Supernumerary marker chromosomes characterized by fluorescence in situ hybridization [FISH]

61%

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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tom 37

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nr 3

Until recently marker chromosomes have presented a difficult diagnostic problem for cytogeneticists as well as for clinicians. Introduction of FISH to cytogenetic analysis has enabled identification of their origin giving possibility to outline specific phenotypic effects 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 chromosomes 13 and 21 or 14 and 22. Clinical consequences of marker chromosomes including the risk for chromosomal nondisjunction and trisomy 21 as well as the risk for uniparental disomy (UPD) are discussed.

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Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling

51%

Hoffman-Zacharska D., Mazurczak T., Zajkowski T., Tataj R., Gorka-Skoczylas P., Polatynska K., Kepczynski L., Stasiolek M., Bal J.

Journal of Applied Genetics

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2016

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tom 57

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nr 3

10

Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrom

51%

Milewski M., Zygulska M., Bal J., Deelen W. H., Obersztyn E., Bocian E., Halley D. J. J., Horst J., Mazurczak T.

Acta Biochimica Polonica

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1996

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tom 43

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nr 2

The unstable DNA sequence in the FMR1 gene was analyzed in 85 individuals from Polish families with fragile X syndrome in order to characterize mutations responsible for the disease in Poland. In all affected individuals classified on the basis of clinical features and expression of the fragile site at X(q27.3) a large expansion of the unstable sequence (full mutation) was detected. About 5% (2 of 43) of individuals with full mutation did not express the fragile site. Among normal alleles, ranging in size from 20 to 41 CGG repeats, allele with 29 repeats was the most frequent (37%). Transmission of premutated and fully mutated alleles to the offspring was always associated with size increase. No change in repeat number was found when normal alleles were transmitted.

11

Analysis of unstable DNA sequence in FRM1 gene in Polish families with fragile X syndrome

51%

Milewski M., Zygulska M., Bal J., Deelen W. H., Obersztyn E., Bocian E., Halley D. J. J., Horst J., Mazurczak T.

Acta Biochimica Polonica

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1996

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tom 43

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nr 2

12

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

42%

Pietrzak J., Mrasek K., Oberszyn E., Stankiewicz P., Kosyakova N., Weise A., Cheung W. W., von E. F., Mazurczak T., Bocian E., Liehr T., Cai W. W.

Journal of Applied Genetics

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2007

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tom 48

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nr 2

167-175

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)(:p 11.1 →q 12:) accompanied by a sSMC( 18): r( 18)(:p 11,2→q 11.1::p 11,2→q 11.1:), inv dup( 18)(:p 11.1→ql 1.1::q 11.1→p 11.1:), or der( 18)(:p 11.2→q11.1::ql 1.1→p 11.1:). 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.

13

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

37%

Bartnik M., Nowakowska B., Derwinska K., Wisniowiecka-Kowalnik B., Kedzior M., Barnaciak J., Ziemkiewicz K., Gambin T., Sykulski M., Bezniakow N., Korniszewski L., Kutkowska-Kazmierczak A., Klapecki J., Szczaluba K., Shaw C. A., Mazurczak T., Gambin A., Obersztyn E., Bocian E., Stankiewicz P.

Journal of Applied Genetics

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2014

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tom 55

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nr 1

14

Polish Registry of Congenital Malformations - aims and organization of the registry monitoring 300 000 births a year

32%

Latos-Bielenska A., Materna-Kiryluk A., Balcar-Boron A., Borszewska-Kornacka M., Breborowicz G., Czerwionka-Szaflarska M., Dobrzanska A., Gadzinowski J., Gajewska E., Godula-Stuglik U., Helwich E., Krawczynski M., Limon J., Mazurczak T., Mejnartowicz J., Sawulicka-Oleszczuk H., Rusin J., Stanczyk J., Szczapa J., Szwalkiewicz-Warowicka E., Swietlinski J., Szymanski W., Walczak M.

Journal of Applied Genetics

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2005

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tom 46

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nr 4

341-348

In 1997, the Polish Registry of Congenital Malformations (PRCM) was established, to fulfil epidemiological, prophylactic, socioeconomic and scientific functions. The PRCM is a population-based registry monitoring currently about 300 000 births a year in 13 provinces. Such a large area and population require a special organizational structure of the Registry. The PRCM Central Working Group and the computer database are located in the Department of Medical Genetics, University of Medical Sciences, Poznań. Here the data are collected, validated, encoded according to the ICD-10, and analysed. Provincial Working Groups are responsible for supervision of data collection in the given province. The PRCM staff has grown from about 250 members in 1997 to more than 400 members today. The PRCM collects information on structural defects diagnosed before the end of the second year of life. Minor anomalies are excluded from the registry. The main source of information is a registration form filled up by the physician diagnosing the anomaly. Since 2004 also electronic reporting has been possible. On 28 September 2005 there were 54 020 entries in the database concerning 33 729 children with at least one congenital malformation and 1261 control entries concerning children without malformations. The PRCM is also an important source of identification of families at genetic risk. Education of physicians and the community in the field of genetic counselling is also an important aim of the PRCM. Since 2001, the PRCM has been a member of the Eurocat. Detailed information on PRCM organization, electronic reporting, and results are available at the PRCM website (www.rejestrwad.pl).

Ograniczanie wyników

Ataksja Friedreicha - zastosowanie różnych metod opartych na technice PCR w diagnostyce molekularnej ekspansji powtórzeń [GAA]n

Indentification of three different chromosomal additions by chromosome painting using fluorescence in situ hybridization [FISH] technique

Ocena jakości cytogenetycznych badań diagnostycznych według kryteriów brytyjskiego systemu kontroli UK NEQAS. Analiza wyników uzyskanych w latach 1996-1999

The frequency of mutations in Exon 11 of the CF gene in Polish cystic fibrosis patients

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

Recombination aneusomy of subtelomeric regions of chromosome 5, resulting from a large familial pericentric inversion invInstitute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland[p15.33q35.3]

Molecular versus classical cytogenetics - evaluation of 20 Prader-Willi syndrome patients

Supernumerary marker chromosomes characterized by fluorescence in situ hybridization [FISH]

Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling

Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrom

Analysis of unstable DNA sequence in FRM1 gene in Polish families with fragile X syndrome

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

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

Polish Registry of Congenital Malformations - aims and organization of the registry monitoring 300 000 births a year