A brief description of chromosome aberrations and sister chromatid exchange (SCE) as cytogenetic endpoints for evaluation of DNA damaging agents is presented. Problems associated with the use of cytogenetic assays as population monitors of radiation and chemical exposures are discussed. Adequate cell sample size requirements and accurate assessment of cummulative exposure effects with increasin...

PURPOSE Cytogenetic analysis of a pleomorphic adenoma (PA) arising in the major salivary glands, in particular the parotid, is well documented, with chromosome 8 being the most commonly involved aberration, mainly in t(3;8). However, cytogenetic studies of PA in the minor salivary glands (MSGs) are rare and, to the authors' knowledge, only 3 reports have been published. The authors investigated...

BACKGROUND Cytogenetic abnormalities have important implications in diagnosis and prognosis of acute leukemia and are now considered an important part of the diagnostic workup at presentation. Karyotype, if known at the time of diagnosis, guides physicians to plan appropriate management strategies for their patients. AIM AND OBJECTIVES To determine the cytogenetic profile of acute lymphoblast...

Objective(s:Cleft lip/palate are common congenital anomalies, affecting approximately 2/1000 live births. Pierre Robin Sequence is a subgroup of the cleft palate population. Chromosomal abnormalities near the SOX9 gene disrupt the regulation of this gene and prevent the SOX9 protein from properly controlling the development of facial structures, which leads to isolated PRS. The present study wa...

down syndrome is one of the most common causes of mental retardation observed in approximately 1/700 live birth. the use of two or more str markers related to chromosome 21 facilitates the diagnosis of down syndrome within about six hours from the collection of the samples. this is the first study has been performed in iranian population to assess the diagnostic value of using small tandem repe...

BACKGROUND The accurate identification of cytogenetic abnormalities in multiple myeloma (MM) has become more important over recent years for the development of new diagnostic and prognostic markers. In this study, we retrospectively analyzed the cytogenetic aberrations in MM cases as an initial assessment in a single institute. METHODS We reviewed the cytogenetic results from 222 patients who...

Cytogenetic abnormalities are found in 50-60% of newly diagnosed acute myeloid leukemia (AML) of adult patients. Cytogenetic analysis of bone marrow leukemic cells is an important pre-treatment evaluation for a correct prognostic stratification of patients, that permit to separate AML patients in three broad prognostic categories: high, intermediate and low risk. The determination of cytogeneti...

Uterine leiomyomata (myomas) are associated with a variety of characteristic cytogenetic abnormalities. The significance of these chromosomal aberrations in the pathobiology of myomas remains to be determined. The present study investigated the relationship between myoma cytogenetic abnormalities and size. A total of 114 myoma specimens were obtained from 92 patients undergoing myomectomy or hy...

Cytogenetic and DNA analysis in 12 people with stigmata of Turner's syndrome was carried out. Cytogenetic analysis of these patients showed two subjects with 46,X, i(Xq) karyotypes, one with 45,X/46,X, i(Xq), one with 46,X,t(X;Y), and eight with 45,X/46,X,mar. Molecular analysis of DNA samples was performed in nine out of 12 patients with marker chromosomes. PCR analysis with oligoprimers speci...

Trisomy 12 is the most common cytogenetic abnormality in chronic lymphocytic leukemia (CLL), and a number of studies have suggested that it may be an adverse prognostic indicator. We have evaluated the usefulness of fluorescence in situ hybridization with a chromosome 12-specific probe as a simple means for detecting trisomy 12 in interphase cells. Forty cases of B-cell CLL previously studied w...