we present 2 cases of likely rare event. in case 1, 3rd degree consanguineous marriage revealed inv(6) with same break points in parents who were found to be phenotypically normal. the same inv(6) being inherited in progeny but presented with low amh (anti mullerian hormone) and high level of fsh (follicular stimulating hormone) leading to polycystic ovarian syndrome/premature ovarian failure. ...

Compared with fluorescence in situ hybridization (FISH), conventional metaphase cytogenetics play only a minor prognostic role in chronic lymphocytic leukemia (CLL) so far, due to technical problems resulting from limited proliferation of CLL cells in vitro. Here, we present a simple method for in vitro stimulation of CLL cells that overcomes this limitation. In our unselected patient populatio...

Cytogenetics study using combination of conventional cytogenetics and fluorescent insitu hybridization was carried out in 171 pediatric acute lymphoblastic leukemia patients subgrouped to B-ALL (n=126) and T-ALL (n=45) by bone marrow morphology and immunophenotype. The chromosomal aberration frequency in B-ALL and T-ALL was 79% and 71%, respectively. TEL/AML1 translocation was detected in 28% o...

The past 100 years represent almost the entire history of the recognition of the role of genetics in human cancer. The purpose of this work is to: 1) review that history; 2) explore the techniques that have brought cancer genetics to its present state of knowledge; and 3) to provide preliminary data on how cytogenetics, fluorescence in situ-hybridization (FISH) and molecular techniques contribu...

BACKGROUND AND OBJECTIVES The diagnosis of polycythemia vera (PV) is supported by the finding of an abnormal karyotype in patients with erythrocytosis. However, most PV patients have normal marrow cytogenetics at presentation and there is reluctance to use this test routinely. Comparative genomic hybridization (CGH) is a cytogenetic screening technique that analyzes interphase cells. This appro...

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...

OBJECTIVE To evaluate the effectiveness of whole-genome array comparative genomic hybridization (aCGH) in prenatal diagnosis in Hong Kong. METHODS Array CGH was performed on 220 samples recruited prospectively as the first-tier test study. In addition 150 prenatal samples with abnormal fetal ultrasound findings found to have normal karyotypes were analyzed as a 'further-test' study using Nimb...

BACKGROUND More than 50% of patients with myelodysplastic syndromes present cytogenetic aberrations at diagnosis. Partial or complete deletion of the long arm of chromosome 5 is the most frequent abnormality. The aim of this study was to apply fluorescence in situ hybridization of 5q31 in patients diagnosed with de novo myelodysplastic syndromes in whom conventional banding cytogenetics study h...