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Subtelomeric rearrangements in Polish subjects with intellectual disability and dysmorphic features

100%

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.

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A stable density approach to probe selection for a custom aCGH design

100%

Gambin T., Stankiewicz P., Gambin A.

BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology

2011

tom 92

nr 3

Application of multiplex FISH, CGH and MSSCP techniques for cytogenetic and molecular analysis of transitional cell carcinoma [TCC] cells in voided urine specimens

80%

Constantinou M., Binka-Kowalska A., Borkowska E., Zajac E., Jalmuzna P., Matych J., Nawrocka A., Kaluzewski B.

Journal of Applied Genetics

2006

tom 47

nr 3

Multiplex FISH (UroVysion), Comparative Genomic Hybridization (CGH), and Multitemperature Single-Strand Conformation Polymorphism (MSSCP) were applied for non-invasive diagnosis and prognosis of bladder cancer. The UroVysion test was positive in 80% of patients with pTl and in 100% of patients with either pT2 or pT3 tumours. Tumours with pT3T4 stages were characterized by high numbers of chromosomal imbalances, detected by CGH. The mutation of the p53 gene was detected in 16% of patients, but only in those with pT2 or pT3 tumours.

Ograniczanie wyników

2 Journal of Applied Genetics

1 BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology

1 Binka-Kowalska A.

1 Bogdanowicz J.

1 Borkowska E.

1 Constantinou M.

1 Gambin A.

1 Gambin T.

1 Gawlik-Zawislak S.

1 Ilnicka A.

1 Jalmuzna P.

1 Jozwiak A.

1 Kaluzewski B.

1 Korniszewski L.

1 Matych J.

1 Nawrocka A.

1 Pawlowska B.

1 Sobiczewska B.

1 Stankiewicz P.

1 Zajac E.

1 Zaremba J.

1 Zdzienicka E.

1 2011

1 2010

1 2006

Wyniki wyszukiwania

Subtelomeric rearrangements in Polish subjects with intellectual disability and dysmorphic features

A stable density approach to probe selection for a custom aCGH design

Application of multiplex FISH, CGH and MSSCP techniques for cytogenetic and molecular analysis of transitional cell carcinoma [TCC] cells in voided urine specimens