MOTIVATION Genome analysis has become one of the most important tools for understanding the complex process of cancerogenesis. With increasing resolution of CGH arrays, the demand for computationally efficient algorithms arises, which are effective in the detection of aberrations even in very noisy data. RESULTS We developed a rather simple, non-parametric technique of high computational effi...

INTRODUCTION Few conventional cytogenetic studies of squamous cell carcinoma (SCC) have been performed to date. The introduction of cytogenetic techniques such as comparative genomic hybridization (CGH) has resolved some of the problems associated with conventional cytogenetics. The aim of this study was to analyze the presence of genetic abnormalities in a series of patients with SCC using the...

background: in most mammals, sex is determined at the beginning of gestation by the constitution of the sex chromosomes, xy in males and xx in females. case: here we report an interesting case characterized by ambiguous genitalia and ovotestis in a newborn carrying an apparently female karyotype (46 xx). array comparative genomic hybridization (array-cgh) revealed an unbalanced rearrangement re...

Linkage studies in high-risk families have led to the identification of several important susceptibility genes for hereditary cancer. Unfortunately, such studies offer limited possibilities in the search for high-penetrance bladder cancer genes, as extended bladder cancer families are very rare. Traditional karyotyping or conventional comparative genomic hybridization (CGH) may reveal constitut...

OBJECTIVE This study investigated the capacity of genetic analysis of uveal melanoma samples to identify high-risk patients and discusses its clinical implications. METHODS Patients with posterior uveal melanoma were prospectively enrolled. Tumour samples were derived from enucleated globe, fine-needle aspirates or endoresection. Chromosome 3 and 8 status was determined by array comparative g...

AIMS Primary non-Hodgkin's lymphoma of bone (PLB) is a rare subtype of primary extranodal diffuse large B cell lymphoma. PLB has morphological homogeneity and a relatively favourable clinical behaviour. Recent studies report that array-based comparative genomic hybridisation (array-CGH) analysis can be used to classify lymphomas into clinically and biologically relevant phenotypes and possibly ...

Recent developments in DNA microarray technology have enabled a new and highly effective platform for performing comparative genomic hybridization (CGH) measurements. CGH measures anomalies in DNA copy number. Such copy number changes are now thought to play an important role in a number of diseases, particularly cancer and developmental disorders, and may also lead to important insights releva...

Children with developmental delay or mental retardation (DD/MR) are commonly encountered in child neurology clinics, and establishing an etiologic diagnosis is a challenge for child neurologists. Among the etiologies, chromosomal imbalance is one of the most important causes. However, many of these chromosomal imbalances are submicroscopic and cannot be detected by conventional cytogenetic meth...