introduction: pathophysiology of cancer is based on genetic instabilities. this can explain recent important role of genetic studies in such diseases. defects can be large (on molecular scale) at the level of chromosomal or small in nucleotide level, which eventually causes to irreversible change in the cell. conventional technical methods in cancer genetics are generally based on molecular or ...

s of the 32nd Annual American Cytogenetics Conference Held on April 23–26, 1994 at the Wintergreen Resort, Virginia

The development of various analitic techniques like classical cytogenetics, molecular cytogenetics and molecular methods has greatly improved our ability to understand the basis of cancer development, that can be helpful in hematological diagnostics and treatment. Thus, improving these methods and raising the diagnostic standards remain of key importance in haematooncology. The influence of cyt...

In this lecture two-part lecture we will focus on the importance of cytogenetics and molecular biology in understanding the causation of solid tumors and on how this information is being developed for the clinical laboratory. We will review the recurrent rearrangements in some of the pediatric neoplasms and relate the observed changes to the molecular biology that underlies these cancers. The r...

Fifty years have elapsed since the discovery of the number of human chromosomes in 1956. Newer techniques have been developed since then, ranging from the initial conventional banding techniques to the currently used molecular array comparative genomic hybridisation. With a combination of these conventional and molecular techniques, cytogenetics has become an indispensable tool for the diagnosi...

We report on a case of acute myeloid leukemia in a 17-year old boy affected by Shwachman Diamond syndrome (SDS). Conventional cytogenetics at diagnosis revealed an abnormal clone with complex karyotypic changes including typical myeloid aberrations, such as monosomy 5, tetrasomy of chromosome 8, trisomy 9, and deletion of the short arm of chromosome 12. The boy was treated with conventional che...

Based on an interview with José Carlos Cabral de Almeida, who took part in the investigative process, the article explores the research that culminated in the establishment of the genetic etiology of Turner syndrome. Cabral de Almeida also discusses other work that he sees as landmarks in the birth of cytogenetics and offers his current view of the development of clinicalgenetics and the import...

Secondary chondrosarcoma is a malignant chondroid tumor arising in a benign precursor. Synovial chondromatosis is a benign chondroid lesion that rarely transforms to chondrosarcoma. We present the case of a 54-year-old male with the diagnosis of low-grade secondary peripheral chondrosarcoma developed in the context of synovial chondromatosis. Cytogenetics revealed a novel aberration t(1;14)(q23...

Chronic lymphocytic leukemia (CLL) has consistent 13q chromosomal abnormalities detected by conventional cytogenetics. Using interphase cytogenetics we show deletion of a l-megabase 13q12.3 locus, encompassing the 6RCAZ gene, in 80% of 35 CLL cases studied. Homozygous deletion of 6RCA.2, located within the minimal deletion consensus, was detected in a significant population of cells in 60% of ...