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Metabolizm trójglicerydów tkanki tłuszczowej

100%

Korniszewski L. , Krotkiewski M.

nr 3

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

1996

tom 37

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.

Subtelomeric rearrangements in Polish subjects with intellectual disability and dysmorphic features

51%

Bogdanowicz J. , Pawlowska B. , Ilnicka A. , Gawlik-Zawislak S. , Jozwiak A. , Sobiczewska B. , Zdzienicka E. , Korniszewski L. , Zaremba J.

Journal of Applied Genetics

2010

tom 51

nr 2

215-217

Fluorescent in situ hybridization (FISH) was performed in 76 patients referred to our department because of intellectual disability and dysmorphic features that can be related to subtelomeric microaberrations. In all the patients, conventional cytogenetic methods revealed normal karyotype. Four (5.3%) subtelomeric rearrangements were detected by FISH: 2 subtelomeric 1p36 deletions, an unbalanced translocation involving chromosomes 1 and 12 with 1p36 deletion, and a de novo balanced translocation involving chromosomes 19 and 22. Thus, 3 cases of 1p36 subtelomeric deletion were found (3.95%). To confirm subtelomeric rearrangements in 2 patients, comparative genomic hybridization (CGH) was applied. Moreover, 3 cases of polymorphism without phenotypic effects were found: in 2 patients, the polymorphism involved the long arm of chromosome 2 (maternal derivative in both patients), while in the third patient, a polymorphism of the long arm of chromosome 7 was diagnosed. The latter polymorphism was also found in the patient's mother and grandfather.

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

36%

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

2014

tom 55

nr 1