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1

Complex translocations with chromosome Philadelphia positive and negative in patients with chronic myelois leukemia [CML]

100%
Stanczak H., Brycz-Witkowska J., Chmarzynska-Mroz E., Malinowska J., Sachs W., Wasiutynski A., Jedrzejczak W. W.
Folia Histochemica et Cytobiologica. Supplement
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2001
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tom 39
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nr 1
2
Artykuł dostępny w postaci pełnego tekstu - kliknij by otworzyć plik
Content available

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

100%
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.
3
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Molecular versus classical cytogenetics - evaluation of 20 Prader-Willi syndrome patients

100%
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.
4
Artykuł dostępny w postaci pełnego tekstu - kliknij by otworzyć plik
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Supernumerary marker chromosomes characterized by fluorescence in situ hybridization [FISH]

100%
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.
5

Cytogenetic studies in chronic myeloid leukemia

100%
Chmarzynska-Mroz E., Brycz-Witkowska J., Stanczak H., Boguradzki A., Wasiutynski A., Jedrzejczak W. W.
Folia Histochemica et Cytobiologica. Supplement
|
2001
|
tom 39
|
nr 1
6

Correlation between hyperdiploidy 51plus of acute lymphoblastic leukemia and DNA ploidy

84%
Brycz-Witkowska J., Sikorska-Fic B., Stanczak H., Chmarzynska-Mroz E., Rybczynska J., Wasiutynski A., Rokicka-Milewska R., Wasik M.
Folia Histochemica et Cytobiologica. Supplement
|
2001
|
tom 39
|
nr 1
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