Background & Objective: Cytogenetic abnormalities in Multiple myeloma (MM) has emerged as the most important factor that determine the prognosis and survival. Fluorescence in situ hybridization (FISH) can detect a greater number of cytogenetic abnormalities as compared to conventional karyotyping and hence has become the standard test in determining genetic abnormalities in MM....

The establishment of human diploid chromosome number (Tjio and Levan, 1956), have led to the foundations of human cytogenetics. Since then, due to the rapid developments of new techniques for chromosome analysis, many other chromosome disorders were recognized. The introduction of banding techniques, yielding a highly reproducible banding pattern, allowed the reliable identification of every si...

Purpose To describe the frequencies of chromosomal abnormalities found in abortion material, and to observe its correlation to maternal age. Methods A retrospective study was conducted based on data obtained from the databank of a medical genetics laboratory in Belo Horizonte, MG, Brazil. A total of 884 results from products of conception analysis were included, 204 of which were analyzed by cy...

The Philadelphia chromosome was the first genetic abnormality discovered in cancer (in 1960), and it was found to be consistently associated with CML. The description of the Philadelphia chromosome ushered in a new era in the field of cancer cytogenetics. Accumulating genetic data have been shown to be intimately associated with the diagnosis and prognosis of neoplasms; thus, karyotyping is now...

BACKGROUND AND OBJECTIVES Imatinib is the new standard drug treatment for patients with chronic myelogenous leukemia (CML). Quantitative reverse transcription-polymerase chain reaction (qPCR) for detection of BCR-ABL transcripts is frequently used for monitoring patients in addition to or instead of conventional cytogenetics, although its place in the overall diagnostic framework is not yet cle...

BACKGROUND AND OBJECTIVE Cross-species color banding (RxFISH) is a new FISH technology based on the use of differentially labeled gibbon chromosome probes to obtain a specific color banding pattern for each human chromosome. The aim of the study was to test the RxFISH technique for better characterization of complex karyotypes in patients with T-prolymphocytic leukemia (T-PLL). DESIGN AND MET...

Acquired clonal chromosomal abnormalities are found in about 30-50% of primary myelodysplastic syndromes (MDS). These abnormalities are predominantly characterized by total/partial chromosomal losses or gains and rarely by balanced structural aberrations. Trisomy 8 represents the most common chromosomal gain. In the present study, the numerical aberration of chromosome 8 was evaluated by the fl...

Fluorescent in situ hybridization (FISH) is a molecular cytogenetic technique that exploits the availability of recombinant deoxyribonucleic acid (DNA) technology. In metaphase FISH, a specific nucleic acid sequence (probe) is bound to the homologous segment on a metaphase chromosome in a fixed preparation on a glass slide. The presence of a region-specific DNA sequence in a nondividing cell ca...

OBJECTIVE To compare the sensitivity and specificity of Real Time Polymerase Chain Reaction (RT-PCR) with conventional cytogenetics in diagnosis of chronic myeloid leukemia. STUDY DESIGN A cross-sectional, analytical study. PLACE AND DURATION OF STUDY The Armed Forces Institute of Pathology (AFIP), Rawalpindi, from December 2010 to January 2012. METHODOLOGY A total number of 40 patients w...

The objective of this study was to design DNA probe sets that enable the detection of chromosome aberrations in acute myeloid leukemia (AML) by interphase cytogenetics using fluorescence in situ hybridization (FISH) and to compare the results of interphase cytogenetics with those of conventional chromosome banding analysis. One hundred five consecutive patients with adult AML entered on a multi...