Pallister-Killian syndrome (PKS) is a rare genetic disorder usually characterized by mosaic tetrasomy of isochromosome 12p detected in cultured fibroblast cells. We describe here a patient with PKS and intrachromosomal triplication of the short arm of chromosome 12. Her karyotype was mos 46,XX,inv trp(12)(p11.2p13)[34]/ 46,XX[16]de novo by conventional cytogenetics and fluorescent in situ hybri...

Introduction Recent developments in molecular cytogenetics and molecular cell biology have born fruits as new medical strategies. In the field of diagnostic surgical pathology, the introduction of so-called molecular diagnostics appears to be based on such trends. Although most female genital tract tumors have not fully been studied molecular-cytogenetically, the concept, nomenclature, and the ...

We report the case of a Moroccan boy with mental retardation, hyperactivity, epilepsy, developmental problems and behavioural disorders. Cytogenetic analysis showed the presence of a supernumerary marker chromosome. Molecular cytogenetics allowed us to determine the marker as an inverted duplication of chromosome 15. It is the first case of a Moroccan patient with tetrasomy 15q in which fluores...

Int Clin Pathol J 2016, 2(2): 00032 locus has been identified in children of age two years or younger with various types of leukemia. Heterogeneity of the breakpoints ranging from 7q32 (very few) or q36 (frequently) and 12p13 have been reported in myeloid disorders [4-9]. We report here a case of Pediatric Acute Erythroblastic Leukemia with a variant t(7;12) translocation involving three chromo...

a total number of 66 chorionic villus samples were cytogenetically investigated. the samples consisted of 30 experimental cvs from spontaneously aborted materialand 36 from live gestations.80% of the samples were successfully grown, of the 30 cases 40% (12) and 33% (10)contained a normal female and a normal male karyotype, respectively, 3.3% (1) and3.3% (1) had abnormal karyotypes (47,xx, + 21;...

M4Eo acute myeloid leukaemia (AML) patients with the typical chromosome 16 abnormalities have a favourable prognosis. These subtle 16q22 gene rearrangements can be difficult to detect by conventional cytogenetic methods and if missed could lead to the incorrect assignment of prognostic group and hence subsequent treatment strategies. We retrospectively studied 13 patients diagnosed with M4Eo AM...

Philadelphia chromosome (Ph) is found in more than 95% of Chronic Myeloid Leukaemia (CML) patients arising from the reciprocal translocation of chromosomes 9 and 22 which results in the formation of chimeric fusion gene BCR-ABL. This paved the path for targeted gene therapy in CML and thus plays a pivotal role in diagnosis and prognosis. Fluorescence in situ hybridization (FISH) is a rapid and ...

Fluorescence In situ hybridization (FISH) is a technique that can be used for the analysis of genomic aberrations in tumor cells. The resolution level of FISH is by far better than chromosome banding which is also widely used for the study of chromosome aberrations in cancer. In addition to the improved resolution FISH allows for the analysis of genomic aberrations not only on metaphase chromos...

OBJECTIVE The aim of the study was to examine the usage of multi colour FISH technology as an adjunct to conventional cytogenetics for the prenatal diagnosis of aneuploidy in interphase nuclei from high risk pregnancies. METHODS Amniotic fluid samples were collected for interphase FISH analysis using DNA probes for chromosomes 13, 18, 21, X and Y. All the probes were directly labeled with flu...

To understand the cytogenomic evolution of vertebrates, we must first unravel the complex genomes of fishes, which were the first vertebrates to evolve and were ancestors to all other vertebrates. We must not forget the immense time span during which the fish genomes had to evolve. Fish cytogenomics is endowed with unique features which offer irreplaceable insights into the evolution of the ver...