During 1995 to 2006, 382 cases clinically suspected for Down syndrome were investigated for cytogenetic study. Free trisomy 21 constituted 84.8% of cases, translocation 8.9%, mosaic 3.9% and in 2.4% cases regular T21 was associated with structural or numerical changes. Translocation was parentally inherited in 26.5% cases and maternal transmission was twice as common as paternal. Males were mor...

INTRODUCTION The limitation of cytogenetic analysis is that the Ph chromosome cannot be detected in clumped metaphase or in interphase cells. Fluorescence in situ hybridization (FISH) is a highly sensitive molecular genetic technique, which enables to detect break point cluster region--Abelson (BCR-ABL) complex and minimal residual disease in all Ph positive CML patients not only in metaphase b...

OBJECTIVES: Quantitative fluorescence polymerase chain reaction (QF-PCR) is a rapid and reliable method for screening aneuploidies, but in Brazil, it is not used in public services. We investigated the accuracy of QF-PCR for the prenatal recognition of common aneuploidies and compared these results with cytogenetic results in our laboratory. METHOD: A ChromoQuant QF-PCR kit containing 24 prim...

Apomixis genes have been successfully transferred to cassava by hybridizing it with the wild species, M. glaziovii. An interspecific hybrid of cassava and M. glaziovii was left for open pollination during three subsequent generations. Seven sibs and their maternal progenitor of the fourth generation were genotyped using five microsatellite loci previously developed for cassava. All sibs were id...

The paper represents a comparative cytogenetic analysis of three populations of Hypostomus regani in Brazil.Two populations belong to the Upper Paraná River Basin and the third one, the karyotype of which is described for the first time, was probably introduced into the São Francisco River Basin through transposition from the Piumhi River. Karyotype features of populations of Hypostomus regani ...

background: recurrent abortion is a difficult medical problem happening in about 1-2% of fertile women. most spontaneous miscarriages which happen in the first and second trimesters are caused by chromosomal abnormalities. objective: the present study tries to find the rate of chromosomal abnormalities in couples with recurrent pregnancy loss. materials and methods: in total 165 couples were re...

The incidence of acute biphenotypic leukaemia has ranged from less than 1% to almost 50% in various reports in the literature. This wide variability may be attributed to a number of reasons including lack of consistent diagnostic criteria, use of various panels of antibodies, and the failure to recognize the lack of lineage specificity of some of the antibodies used. The morphology, cytochemist...

In this lecture two-part lecture we will focus on the importance of cytogenetics and molecular biology in understanding the causation of solid tumors and on how this information is being developed for the clinical laboratory. We will review the recurrent rearrangements in some of the pediatric neoplasms and relate the observed changes to the molecular biology that underlies these cancers. The r...