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Situ Hybridisation Analysis (situ + hybridisation_analysis)
Selected AbstractsThe prognostic significance of cytogenetic aberrations in childhood acute myeloid leukaemia.EUROPEAN JOURNAL OF HAEMATOLOGY, Issue 6 2007A study of the Swiss Paediatric Oncology Group (SPOG) Abstract In childhood-onset acute myeloid leukaemia (AML) the clinical value of karyotypic aberrations is now acknowledged, although there is still debate concerning the prognostic significance of some events. To add to this knowledge, cytogenetic analysis was performed on a consecutive series of 84 childhood AML patients diagnosed in Switzerland. A result was obtained for all patients, with 69 (82%) showing a clonal karyotypic aberration. In the remaining 15 (18%), no karyotypic aberration was seen by either conventional or fluorescence in situ hybridisation analyses. The most frequent aberrations observed were t(11q23) (19% of all patients), t(8;21) (12%) and +8 (11%). Except for cytogenetics, no clinical parameter was shown to be significantly associated with outcome. The analysis of individual cytogenetic subgroups demonstrated that aberrations involving chromosome 16q were the strongest predictor of a good prognosis, while +8 and complex karyotypes represented the strongest predictors of a poor prognosis. It was also noteworthy that patients with the rare aberrations of del(11q) (n = 4) and t(16;21)(p11;q22) (n = 3) had a poor outcome. The results support the importance of cytogenetic analysis in childhood AML, but show that further work is required in the classification of the poor prognosis aberrations. [source] Prenatal diagnosis and postnatal follow-up of a child with mosaic trisomy 22 with several levels of mosaicism in different tissuesJOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (ELECTRONIC), Issue 5 2010Vincenzo Mazza Abstract We report on the case of a patient with mosaic trisomy 22, who was diagnosed prenatally by amniocentesis during the 16th week of pregnancy. In the foetus, three trisomic clones were found out of the nine that were analyzed (the other six clones had a 46,XY karyotype). Cytogenetic analysis of cord blood during the 20th week of pregnancy showed a normal male karyotype; however, a placental biopsy that was performed at the same time showed 100% and 95% trisomic cells in the chromosomal analysis of direct and long-term cultures, respectively. A follow-up ultrasonographic examination excluded major congenital malformations and the abdominal and cranial circumferences were normal until the 24th week of pregnancy. At this point, a deflection of the growth curve occurred and the values were persistently below the 3rd centile until birth. After birth, karyotypic and fluorescent in situ hybridisation analyses performed on the fibroblasts of the neonate showed that 3,4% of the cell lines were trisomic, and studies using microsatellite markers showed normal allelic segregation, which excluded uniparental disomy. The period of postnatal follow-up was characterised by a significant growth deficit (height and head circumference were less than the 3rd centile) and by mental retardation. The present case is compatible with other earlier reports that showed that the levels of trisomy 22 are tissue-specific and are of little help in establishing the prognosis of the chromosomal abnormality. [source] Isolation and characterization of cgchi3, a nodule-specific gene from Casuarina glauca encoding a class III chitinasePHYSIOLOGIA PLANTARUM, Issue 3 2007Ana Fortunato Chitinases (EC 3.2.1.14) catalyse the hydrolysis of chitin, a homopolymer of ,-1,4-linked N -acetyl- d -glucosamine residues. Plant chitinases are involved in a wide variety of processes; in particular, their expression has been found to be enhanced in symbiotic and pathogenic plant,microbe interactions. During this work we have cloned and characterized a gene encoding a class III chitinase from actinorhizal nodules of Casuarina glauca (cgchi3). CGCHI3 was found to be encoded by a single gene that was specifically activated in nodules as compared with uninoculated control roots and leaves. The expression of this gene was further enhanced in nodules after salicylic acid treatment and completely repressed after wounding. In situ hybridisation analysis revealed that cgchi3 is an early nodulin gene, being expressed in the meristem and in the uninfected cortical cells of young nodules. Based on the obtained results we suggest that this gene is involved in nodule development. This is the first report on a class III chitinase coding gene that is specifically activated during actinorhizal symbiosis. [source] A study of meiotic segregation of chromosomes in spermatozoa of translocation carriers using fluorescent in situ hybridisationANDROLOGIA, Issue 1 2010A. Perrin Summary In the infertile male population, there is a 2,20-time higher probability of having a structural chromosomal abnormality than in general population. Generally, these men have a normal phenotype but they can have sperm abnormalities. As they can produce a variable proportion of unbalanced gametes, it is important to evaluate the percentage of unbalanced chromosomal spermatozoa to assess the risk of injecting a chromosomally unbalanced gamete during ICSI procedure. We report here the meiotic segregation analysis of chromosomes in spermatozoa of 12 men with a balanced reciprocal translocation and 4 men with a Robertsonian translocation using a fluorescent in situ hybridisation analysis. The frequencies of normal or balanced spermatozoa ranged from 34.4% to 49.1% in balanced reciprocal translocation carriers. For Robertsonian translocation, the frequencies of normal or balanced spermatozoa ranged from 78.4% to 91.2%. These analyses allow us to define the orientation of genetic counselling according to the results of meiotic segregation obtained. As a last resort, it could then be discussed of the possibility of having recourse to donor spermatozoa or adoption. [source] 46, XX male sex reversal syndrome: a case report and review of the genetic basisANDROLOGIA, Issue 1 2009T. Wang Summary Sex reversal syndrome is a kind of human genetic disease about gender dysplasia, which is characterised by inconsistency between gonadal sexuality and chromosome sexuality; the incidence rate was about 1 : 20 000,100 000. The clinical manifestations, hormonal levels and cytogenetic findings in a patient of 46, XX male sex reversal syndrome retrospectively were analysed and related published reports were reviewed. The DNA fragments of sex-determining region Y (SRY) gene from the patient was found by polymerase chain reaction, but the fluorescent in situ hybridisation analysis revealed that the SRY translocated from Y to X chromosome. We concluded that the Y chromosomal SRY gene is required for the regulation of male sex determination. The detection of SRY is important for the clinical diagnosis of sex reversal syndrome. Translocation of SRY to X chromosome or other autosomes would be one of the key factors that induced XX male SRS. [source] Sequential fluorescence in situ hybridisation analysis for cryptic t(11;14)(q13;q32) in mantle cell lymphomaBRITISH JOURNAL OF HAEMATOLOGY, Issue 5 2006Sophie Gazzo No abstract is available for this article. [source] | ||||||||||