Ehlers-Danlos syndrome has been divided into several different types according to the variety and severity of clinical manifestations, and may follow autosomal dominant, autosomal recessive, or X linked patterns of inheritance. Only rarely have chromosome anomalies been seen in patients manifesting phenotypic features of the syndrome and most are considered insignificant. However, one case repo...

Deletions and rearrangements involving chromosome 6q have been reported in a number of human cancers such as ovarian and breast tumors as well as melanoma and hemopoietic malignancies. To gain insight into the regions undergoing deletions on the long arm of chromosome 6, we performed a survey ofloss of heterozygosity (LOH) at 1 1 CA repeat markers, mapping from 6q13 to 6q27 in 83 matched sets o...

Few studies focused on B-PLL; the use of B-cell mitogens might increase the detection rate of cytogenetic changes; the most frequent aberrations involve chromosomes 14, 6 and 1; 14q+ changes are the most commonly observed and are often the consequence of a translocation t(11;14)(q13;q32); structural abnormalities of chromosome 6 are primary or secondary; deletion 6q, as well as translocation t(...

Background: Prader-Willi-like syndrome (PWLS) is believed to be caused by a variety of disruptions in genetic pathways both inside and outside of the genetic region implicated in PWS. By definition, PWLS does not demonstrate mutations in the 15q11-q13 region itself. It is a rare disorder whose clinical hallmarks include hypotonia, obesity, short extremities, and delayed development. This syndro...

Background & Aims: To evaluate how characterization of genetic alterations can help in the elucidation of liver carcinogenesis pathways, 137 tumors were analyzed. Methods: High-density allelotype, p53, Axin1, and b-catenin gene mutations were determined. Alterations were analyzed according to clinical parameters. Results: Tumors could be divided into 2 groups according to chromosome stability s...

Previously, we have found that the loss of heterozygosity (LOH) was frequently observed on chromosome 6q in acute/lymphoma-type adult T-cell leukemia (ATL), suggesting a putative tumor-suppressor gene for ATL may be present on chromosome 6q. To further define a region containing this gene, we performed fine-scale deletional mapping of chromosome 6q in 22 acute/lymphomatous ATL samples using 24 ...

Cytogenetic studies were performed in 12 papillary serous adenocarcinomas of the ovary. Of the more than 19 clonal structural chromosome abnormalities observed in these cancers, 6q- and 14q+ were found to be the most frequent. Both markers coexisted in the cells of eight cases; in the other four cases, either a 6q- or 14q+ was present. In at least six cases, the additional segment on the long a...

BACKGROUND AND OBJECTIVES To improve the definition of the incidence and significance of chromosome lesions occurring in marginal zone B-cell lymphoma (MZBCL). DESIGN AND METHODS Fourteen cases of MZBCL diagnosed according to the REAL classification were studied by conventional chromosome analysis (CCA) and by interphase fluorescence in situ hybridization (FISH) using the following probes: 3q...

Lung adenocarcinomas (LAC) of smokers and never-smokers differ from one another in epidemiology, and clinical and molecular characteristics. The pathogenetic differences between these tumors are potential biomarkers and therapeutic targets. Mouse carcinogenesis models of human LAC are proven tools applicable for the identification of these molecular changes. Allelic loss frequency on human chro...