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Wyszukujesz frazę "Stankiewicz, T." wg kryterium: Autor


Wyświetlanie 1-2 z 2
Tytuł:
Indentification of three different chromosomal additions by chromosome painting using fluorescence in situ hybridization [FISH] technique
Autorzy:
Bocian, E
Stankiewicz, P
Stanczak, H
Obersztyn, E
Mazurczak, T
Powiązania:
https://bibliotekanauki.pl/articles/2047283.pdf
Data publikacji:
1996
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
chromosomal addition
fluorescence in situ hybridization method
hybridization
chromosome painting
cytogenetics
Opis:
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.
Źródło:
Journal of Applied Genetics; 1996, 37, 2; 197-204
1234-1983
Pojawia się w:
Journal of Applied Genetics
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Molecular versus classical cytogenetics - evaluation of 20 Prader-Willi syndrome patients
Autorzy:
Stankiewicz, P
Lebiocka, J
Szpecht-Potocka, A
Bocian, E
Stanczak, H
Obersztyn, E
Mazurczak, T
Powiązania:
https://bibliotekanauki.pl/articles/2047150.pdf
Data publikacji:
1997
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
chromosomal deletion
in situ
patient
hybridization
fluorescence
cytogenetics
chromosome region
Prader-Willi syndrome
Opis:
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.
Źródło:
Journal of Applied Genetics; 1997, 38, 2; 217-226
1234-1983
Pojawia się w:
Journal of Applied Genetics
Dostawca treści:
Biblioteka Nauki
Artykuł
    Wyświetlanie 1-2 z 2

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