Folate sensitive fragile site on chromosome 2q13 was detected in a female proband with mild hypertrichosis, negativism, speech disorder, and severe mental retardation. The same chromosomal aberration was also detected in her mother with normal phenotype. Spontaneous expression of fragile site on 2q13 was also observed.

A boy with a duplication 12q24 to qter shows the characteristic phenotype of this chromosome abnormality. The aberration could be analysed as an unbalanced translocation 12/14 de novo by combining different banding techniques with FISH and SKY. Heterologous euchromatin translocations on the heterochromatic short arm regions of the acrocentrics are an extremely rare type of rearrangement.

We describe a case of early myeloid blastic transformation in a 64-year-old man suffering from myelofibrosis with myeloid metaplasia. Both chronic and blastic phase cytogenetic analysis showed trisomy 13 to be the sole chromosome aberration. A potential role for this rare abnormality in determining such an unusually poor clinical outcome is discussed.

The purpose of in-vitro chromosome aberration assay (ABS) is to determine whether the test compound is a clastogen which induces structural changes in chromosomes. The ABS belongs to the standard three test battery for genotoxicity testing for pharmaceuticals recommended by the fourth International Conference on Harmonisation (1997, Brussel). A full account of biological details of this assay c...

The purpose of the in vitro chromosomal aberration test is to identify agents that cause structural chromosome aberrations in cultured mammalian cells (1)(2)(3). Structural aberrations may be of two types, chromosome or chromatid. With the majority of chemical mutagens, induced aberrations are of the chromatid type, but chromosome-type aberrations also occur. An increase in polyploidy may indic...

Long-term exposure to low doses of ionizing radiation may affect cells and tissues and result in various adverse health effects. The purpose of this study was to investigate whether chromosome aberrations and haematological alterations could be used as biomarkers of possible radiation injury in workers exposed to ionizing radiation. Groups totalling 323 medical professionals handling X-ray equi...

Sex chromosome translocations are unique and must be considered separately from translocations between autosomes. Here, we describe the first prenatal case of one twin fetus with an unbalanced translocation between chromosome Y and chromosome 15, presenting a 46,XY,der(15)t(Y;15) karyotype. The other twin had a normal 46,XY karyotype. Cytogenetic analysis of the parental chromosomes revealed th...

Abnormalities of chromosome 17 are important molecular genetic events in human breast cancers. Several famous oncogenes (HER2, TOP2A and TAU), tumor suppressor genes (p53, BRCA1 and HIC-1) or DNA double-strand break repair gene (RDM1) are located on chromosome 17. We searched the literature on HER2, TOP2A, TAU, RDM1, p53, BRCA1 and HIC-1 on the Pubmed database. The association of genes with chr...

This paper presents the genotoxic effect of effluent from a pharmaceutical plant in Ota, Ogun state, Nigeria using the rat bone-marrow metaphase chromosome assay. The effluent was examined for some standard physical and chemical properties. Rats were intraperitoneally exposed to 1%, 5%, 10%, 25% and 50% (v/v, effluent/distilled water) concentrations of the effluent for 48 hr. Distilled water an...

Background The present study offers our contribution on the topic by a retrospective analysis of the prevalence of chromosomal abnormalities in a population of Iranian infertile men attending assisted reproduction programs. MaterialsAndMethods Cytogenetic analysis was performed according to standard methods on cultured cells obtained from the patient peripheral blood. In all, 874 files belongin...