Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation.

Complex chromosome rearrangements (CCRs) are rare structural abnormalities that involve at least two chromosomes and more than two breakpoints and are often associated with developmental delay, mental retardation, and congenital anomalies. We report on a de novo, apparently balanced translocation t(1;5;7)(p32.1;q14.

Congenital anomalies and developmental delay in a boy with double chromosome 6 derived supernumerary marker.

The frequency of small supernumerary marker chromosomes has been estimated to approximately 0.45 per 1000 newborns. They are usually seen as single marker chromosomes in a mosaic state.

[Chromosomal aberrations in differential diagnosis and prognosis in childhood acute leukaemias].

The purpose of our study was to determine the frequency of specific, somatic chromosomal abnormalities in children with acute leukaemia and to evaluate the usefulness of cytogenetic study and DNA analysis as diagnostic and prognostic tools in these diseases. Among 63 children with acute lymphoblastic leukaemia (ALL) and 13 with de novo acute myeloblastic leukaemia (AML), hyperdiploidy was found in 25% and hypodiploidy in 6% of patients. Normal karyotype was found in 44% whereas pseudodiploidy in 25% of children with ALL.

[Role of cytogenetics in the prognosis of patients with multiple myeloma].

The aim of the study was to evaluate the clinical and prognostic significance of cytogenetic abnormalities in multiple myeloma patients. Cytogenetic studies were performed in 95 myeloma patients aged 31-82 (median 64) prior to chemotherapy. The GTG and CBG chromosome banding were performed and chromosomal abnormalities were described according to International System for Human Cytogenetic Nomenclature ISCN (1995).

[Chronic eosinophilic leukemia].

In this research one case of chronic myelogenous eosinophilic leukemia (pbe) transformed into myeloblastic crisis in male patient aged 24, efficiently treated chemotherapy with following performing allogenic bone marrow transplantation was represented. The patients was admitted to the Department of Hematology with the cause of increased leucocytosis (up to 19.9 x 10(9)/l), eosinophilia (up to 15.