AIM To identify cryptic subtelomeric rearrangement, a possible cause of idiopathic mental retardation by means of multiprobe telomere fluorescent in situ hybridization (T-FISH). METHODS Hundred patients (median age 3.0 years) with mental retardation and dysmorphic features were screened using specific T-FISH probes. Multiplex ligation-dependent probe amplification and comparative genomic hybr...

Small supernumerary marker chromosomes (sSMCs), or markers, are abnormal chromosomal fragments that can be hereditary or de novo. Despite the importance of sSMCs diagnosis, de novo sSMCs are rarely detected during the prenatal diagnosis process. Usually, prenatally diagnosed de novo sSMCs cannot be correlated with a particular phenotype without knowing their chromosomal origin and content; ther...

microdeletion syndromes are contiguous gene deletion syndromes of less than 5 megabases.  most often, many of these syndromes are not detectable by  routine chromosomal analysis and require more specific testing techniques such as fish or more accurate general coverage like array comparative genomic hybridization.  as many of these syndromes are phenotypically recognizable and allow for easy cl...

Patients with human epidermal growth factor receptor-2 (HER2)+ breast cancer are eligible for trastuzumab treatment; therefore, accurate assessment of HER2 status is essential. Until recently, only 2 methods were validated for determining the HER2 status of breast tumors in the routine diagnostic setting: immunohistochemical analysis and fluorescence in situ hybridization (FISH). Recently, brig...

Environmental microbiology utilizes indirect methods as microscopy and culture media to its studies. However, these conventional methodologies present problems to quantify and qualify microorganisms and their relation with the environment. The aim of this manuscript was to describe the application of fluorescent in situ hybridization (FISH) in environmental microbiology studies. It was discusse...

he introduction of high resolution chromosome banding at the beginning of the eighties significantly improved the techniques for cancer cytogenetics. New criteria for classification and monitoring of leukemia and lymphoma have been established, and new insights into the understanding of the genetic bases of malignancies have been gained. l The limits of classical cytogenetics, however, are dete...