Reciprocal translocation between the proximal regions of the long arms of chromosomes 13 and 15 resulting in unbalanced offspring: characterization by fluorescence in situ hybridization and DNA analysis

1992 ◽  
Vol 89 (4) ◽  
pp. 407-413 ◽  
Author(s):  
Kathelijne Mangelschots ◽  
Bernadette Van Roy ◽  
Frank Speleman ◽  
Nadine Van Roy ◽  
Jan Gheuens ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Reciprocal Translocation ◽  
Dna Analysis

Conventional Karyotype and Fluorescence in situ Hybridization (FISH) Technology

2019 ◽  
Author(s):  
Janet M. Cowan
Keyword(s):  
In Situ Hybridization ◽  
High Resolution ◽  
Fluorescence In Situ Hybridization ◽  
Dna Analysis ◽  
Karyotype Analysis ◽  
Hybridization Probe ◽  
Clinical Syndromes ◽  
Degree Of Condensation ◽  
Very High

Karyotype analysis of cells has been in use for many years and has led to the causative genetic change in numerous clinical syndromes, including trisomy 21, Klinefelter, Turner, Prader-Willi and Angelman syndromes. The resolution of the test depends on the degree of condensation of the chromosomes in the karyotype, but even at high resolution (> 800 bands per haploid set) the changes identified are in the order of 5 Mb of DNA.  Fluorescence in situ hybridization (FISH) bridges the gap between the relatively low resolution of karyotype analysis and the very high resolution of DNA analysis. With FISH it is possible to identify smaller changes in individual cells. The size of the change identified correlates with the size of the probe, which vary from 120 kb to 600 kb in size. FISH is widely used to confirm deletions or duplications identified by newer methods, such as array analysis.   This review contains 8 figures, 3 tables, and 25 references. Keywords: Cytogenetics, chromosome, karyotype, chromosomal resolution, tissue culture, fluorescence, hybridization, probe

scholarly journals Fluorescence in situ hybridization on Peripheral blood for Chronic Myeloid Leukaemia - Rapid and reliable method

2015 ◽  
Vol 05 (04) ◽  
pp. 092-095
Author(s):  
Meenakshi A. ◽  
Prashanth Shetty D. ◽  
Suchetha Kumari N. ◽  
Michelle Mathias ◽  
Karuna Ramesh Kumar ◽  
...  
Keyword(s):  
Bone Marrow ◽  
In Situ Hybridization ◽  
Chronic Myeloid Leukaemia ◽  
Fluorescence In Situ Hybridization ◽  
Myeloid Leukaemia ◽  
Reciprocal Translocation ◽  
Peripheral Blood ◽  
Reliable Method ◽  
Banding Technique

AbstractPhiladelphia chromosome (Ph) is found in more than 95% of Chronic Myeloid Leukaemia (CML) patients arising from the reciprocal translocation of chromosomes 9 and 22 which results in the formation of chimeric fusion gene BCR-ABL. This paved the path for targeted gene therapy in CML and thus plays a pivotal role in diagnosis and prognosis. Fluorescence in situ hybridization (FISH) is a rapid and reliable technique in molecular cytogenetics to detect BCR-ABL fusion signal in both interphase and metaphase spreads of bone marrow sample. Peripheral blood white cells as a surrogate for bone marrow have been suggested by a few studies.The objective of the study was to evaluate FISH on peripheral blood specimen as a rapid and reliable method to quantify Ph positive cells in a patient with Chronic Myeloid Leukaemia. FISH was performed on interphase nuclei from cultured peripheral blood sample of the patient using BCR/ABL Translocation, Dual fusion probe. Chromosomal analysis was performed by GTG banding technique. FISH and karyotyping confirmed the presence of reciprocal translocation t (9; 12) (q34.1; q11.2).Our results confirmed that FISH technique is a rapid, sensitive, quantitative technique which can be used for the evaluation of CML using peripheral blood. FISH helps in the detection of minimal residual disease and disease recurrence with small percentage of abnormal cells. In our experience, this situation is usually associated with very high WBC count which can result in increase in the percentage of Phpositive cells.

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