Autor: Bocian, E. - Katalog OPAC zbiorów

Skocz do pozycji: 1.

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

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Skocz do pozycji: 2.

Tytuł:: Relationship between molecular, cytogenetic and clinical parameters in 63 individuals with full mutation in FMR1 gene
Autorzy:: Milewski, M
Bal, J
Bocian, E
Obersztyn, E
Mazurczak, T
Powiązania:: https://bibliotekanauki.pl/articles/2047284.pdf
Data publikacji:: 1996
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: inactivation
human disease
gene
X chromosome
mental retardation
clinical parameter
mental status
full mutation
cytogenetic parameter
molecular parameter
fragile X syndrome
amplification size
Opis:: 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.
Źródło:: Journal of Applied Genetics; 1996, 37, 2; 205-215
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 3.

Tytuł:: Supernumerary marker chromosomes characterized by fluorescence in situ hybridization [FISH]
Autorzy:: Bocian, E
Stankiewicz, P
Stanczak, H
Obersztyn, E
Korniszewski, L
Mazurczak, T
Powiązania:: https://bibliotekanauki.pl/articles/2047269.pdf
Data publikacji:: 1996
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: diagnostic problem
chromosome
fluorescence in situ hybridization method
marker chromosome
phenotype-genotype correlation
Opis:: 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.
Źródło:: Journal of Applied Genetics; 1996, 37, 3; 313-324
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 4.

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

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