abstract  background: mosaic form of turner syndrome that represented by two or more  cell lines in an affected individual, often has limitation for detection with classical  cytogenetic methods. the present study was carried out to compare the efficiency of  interphase fluorescence in situ hybridisation (fish) and cytogenetic techniques in  detection of mosaic form of turner syndrome.  methods...

we present 2 cases of likely rare event. in case 1, 3rd degree consanguineous marriage revealed inv(6) with same break points in parents who were found to be phenotypically normal. the same inv(6) being inherited in progeny but presented with low amh (anti mullerian hormone) and high level of fsh (follicular stimulating hormone) leading to polycystic ovarian syndrome/premature ovarian failure. ...

Acute lymphoblastic leukemia (ALL) is a severely invasive hematological cancer that results from the rapid increase and accumulation of lymphoid blasts in blood, bone marrow (BM), other organs. The pervasiveness ALL has made it prevalent childhood acute making up approximately 80% children about 20% adults. Due to prevalence ALL, more accurate diagnosis prognostic methods are required. Proteome...

A Wolf-Hirschhorn syndrome is a rare chromosomal anomaly, which results from deletion of the distal portion short arm chromosome 4 (4p-), diagnosis based on clinical picture, easily recognizable in children, confirmed by molecular cytogenetics. We report case baby with wolf-Hirschhorn revealed status epilepticus.

PURPOSE Patients with adult acute myeloid leukemia (AML) with intermediate cytogenetics remain a heterogeneous group with highly variable individual prognoses. New molecular markers could help to refine cytogenetic stratification. EXPERIMENTAL DESIGN We assessed P-glycoprotein (Pgp) activity and Flt3 internal tandem duplication (ITD+) because of their known prognostic value and because they m...

This study presents results of histopathologic, cytogenetics and flow cytometry analyses performed on Macoma balthica collected from the Gulf of Gdansk (Baltic Sea) in 2003 in order to compare the techniques for diagnosis of neoplasia. The proportion of affected clams gave a crude prevalence of 15.7 %. The four stages of the disease defined by histology and three stages of neoplasia defined by ...