A complex chromosomal rearrangement involving chromosomes 1, 5, 10, and 12 is described. The patient was an infertile, phenotypically normal male. Cytogenetic analyses of his parents showed that the complex translocation arose de novo. Testicular histology showed spermatogenic arrest.

introduction: reverse transcriptase-polymerase chain reaction (rt-pcr) assay is a useful tool for the detection of fusion transcript resulting from specific chromosomal translocation of the leukemia cells. a specific chromosomal abnormality, the philadelphia chromosome (ph), is present in 90% to 95% of cml patients.the aberration results from a reciprocal translocation between chromosome 9 and ...

The indications and results of cytogenetic analysis of 521 amniotic cell cultures performed at 13-16 weeks of gestation were evaluated in this study. 507 fetuses (97.3%) were cytogenetically normal, 14 (2.7%) had unbalanced karyotypes, and 2 fetuses were found to have major abnormalities, one with anencephaly detected by measurement of alpha -fetoprotein levels in amniotic fluid and ultraso...

Abstract Introduction/Objective IRF4 is a regulatory protein which required at several stages of B and T cell development differentiation. Rearrangements the chromosomal region have been detected in various neoplasms including distinct entity WHO tumor classification for diffuse large lymphoma (DLBCL) with rearrangement another an rearranged subtype CD30-positive lymphoproliferative disorder, l...

CHROMOSOMAL polymorphism occurs in many species of Drosophila and Chironomus. Evidence has been accumulated by BEARDMORE, DOBZHANSKY and PAVLOVSKY ( 1960), BATTAGLIA and SMITH (1962), and others that chromosomal polymorphic populations are superior in fitness to monomorphic populations. In most cases it is accepted that populations remain chromosomally polymorphic because the heterokaryotypes a...

We report one case of a de-novo complex chromosomal rearrangement (CCR), t(1;5;13)ins(14;13), in an abnormal 19-month-old boy. Clinical features associated were a mild facial dysmorphy and a psychomotor retardation. Parental ages were, respectively, 29 years for the mother and 60 years for the father. We point out the usefulness of fluorescence in-situ hybridization in elucidating CCRs, and dis...