Search results for "aberrations"
showing 10 items of 192 documents
Single-Nucleotide Polymorphism Array-Based Karyotyping of Acute Promyelocytic Leukemia
2014
Acute promyelocytic leukemia (APL) is characterized by the t(15;17)(q22;q21), but additional chromosomal abnormalities (ACA) and other rearrangements can contribute in the development of the whole leukemic phenotype. We hypothesized that some ACA not detected by conventional techniques may be informative of the onset of APL. We performed the high-resolution SNP array (SNP-A) 6.0 (Affymetrix) in 48 patients diagnosed with APL on matched diagnosis and remission sample. Forty-six abnormalities were found as an acquired event in 23 patients (48%): 22 duplications, 23 deletions and 1 Copy-Neutral Loss of Heterozygocity (CN-LOH), being a duplication of 8(q24) (23%) and a deletion of 7(q33-qter) (…
Corneal and Refractive Astigmatism in Adults: A Power Vectors Analysis
2009
Purpose. In this article, we examine the relationship between corneal and refractive astigmatism (including with the rule, against-the-rule, and oblique astigmatism) in an adult population using power vectors. Methods. Refractive and keratometric measures of astigmatism were conducted on right eyes of 105 white subjects aged 18 to 59 years. We performed a linear regression of refractive astigmatic error on corneal astigmatism, using the J0 and J45 components of the astigmatism. Results. We obtained a statistically significant regression relationship between the corneal (C) and refractive (R) astigmatism for both J0 and J45 components, namely, RJ0 = 1.07 × CJ0 − 0.28; and RJ45 = 1.46 × CJ45 …
Predictive chromosomal clusters of synchronous and metachronous brain metastases in clear cell renal cell carcinoma
2014
Synchronous (early) and metachronous (late) brain metastasis (BM) events of sporadic clear cell renal cell carcinoma (ccRCC) (n = 148) were retrospectively analyzed using comparative genomic hybridization (CGH). Using oncogenetic tree models and cluster analyses, chromosomal imbalances related to recurrence-free survival until BM (RFS-BM) were analyzed. Losses at 9p and 9q appeared to be hallmarks of metachronous BM events, whereas an absence of detectable chromosomal changes at 3p was often associated with synchronous BM events. Correspondingly, k-means clustering showed that cluster 1 cases generally exhibited low copy number chromosomal changes that did not involve 3p. Cluster 2 cases ha…
Array comparative genomic hybridization analysis of chromosomal imbalances and their target genes in gastrointestinal stromal tumors.
2007
Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor of the gastrointestinal tract. The tumors characteristically harbor KIT or PDGFRA mutations, and mutant tumors respond to imatinib mesylate (Glivectrade mark). Chromosomal imbalances resulting in altered gene dosage are known to have a role in the molecular pathogenesis of these tumors, but the target genes remain to be identified. The present study aimed to identify some of these genes. In total, 35 GIST samples were screened for chromosomal imbalances by array-based comparative genomic hybridization. A cDNA array was used to define the minimal common overlapping areas of DNA copy number change. Eight confirmative, …
Cytogenetic findings in secondary acute nonlymphocytic leukemia
1992
Abstract We here report the results of cytogenetic studies carried out in eight patients with acute nonlymphocytic leukemia developed after primary neoplasias. In seven of the reported cases, clonal chromosome aberrations were found, some being specific of de novo acute nonlymphocytic leukemia (ANLL). Numerical abnormalities were detected, such as the total monosomy of chromosomes 5, 7, 21, trisomy of chromosomes 8, 11, 15, and duplication of chromosome Y. Structural changes were also observed: a del(12)(p12), a del(16)(q22), the translocations t(3;5)(p21;q35),t(3;7)(p21;q35), and t(12;14)(p12;q32) and other changes involving chromosome 8. The finding of a hypertetraploid karyotype with com…
Chromosomal abnormalities in Waldenström's macroglobulinemia
1992
We report the results of cytogenetic studies of direct bone marrow (BM) preparations and of short-term BM and peripheral blood (PB) cultures from 17 patients with Waldenström's macroglobulinemia. We noted clonal chromosome changes in 10 patients. Abnormalities affected chromosomes X, Y, 2, 4, 5, 15, 16, 18, 19, 20, 21, and 22; in particular, chromosomes 2, 4, and 5 were involved in structural changes: a homogeneously staining region [hsr(2)], a der(4)t(4;?)(q32;?), and a 5q+. The other chromosomes were involved in numerical abnormalities, such as pseudodiploidy (a 46,X,-X,+15 clone), loss of chromosome Y, and monosomy of chromosomes 16, 18, 19, 20, 21, and 22. Nonclonal chromosome rearrange…
Biodosimetry Based on γ-H2AX Quantification and Cytogenetics after Partial- and Total-Body Irradiation during Fractionated Radiotherapy
2015
The aim of this current study was to quantitatively describe radiation-induced DNA damage and its distribution in leukocytes of cancer patients after fractionated partial- or total-body radiotherapy. Specifically, the impact of exposed anatomic region and administered dose was investigated in breast and prostate cancer patients receiving partial-body radiotherapy. DNA double-strand breaks (DSBs) were quantified by γ-H2AX immunostaining. The frequency of unstable chromosomal aberrations in stimulated lymphocytes was also determined and compared with the frequency of DNA DSBs in the same samples. The frequency of radiation-induced DNA damage was converted into dose, using ex vivo generated ca…
Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridization
2007
OBJECTIVE: Exstrophy of the bladder (EB) is part of the bladder-exstrophy-epispadias complex (BEEC). Because familial occurrence of BEEC is rare, exogenous factors are thought to play a major role in the etiology of most BEEC cases. We aimed to investigate a possible genetic basis of BEEC in a consanguineous kindred of Moroccan origin with three members showing the same phenotypic expression of BEEC. PATIENTS AND METHODS: The three affected males (two cousins and their maternal uncle) all presenting with nonsyndromic classic EB, were born in Morocco or The Netherlands. One Moroccan patient had an open bladder surface for 22 years due to late surgical reconstruction, avoided upright posture …
Four unrelated patients with lubs X-linked mental retardation syndrome and different Xq28 duplications
2010
The Lubs X-linked mental retardation syndrome (MRXSL) is caused by small interstitial duplications at distal Xq28 including the MECP2 gene. Here we report on four novel male patients with MRXSL and different Xq28 duplications delineated by microarray-based chromosome analysis. All mothers were healthy carriers of the duplications. Consistent with an earlier report [Bauters et al. (2008); Genome Res 18: 847-858], the distal breakpoints of all four Xq28 duplications were located in regions containing low-copy repeats (LCRs; J, K, and L groups), which may facilitate chromosome breakage and reunion events. The proximal breakpoint regions did not contain known LCRs. Interestingly, we identified …
FISH screening of aneuploidies in preimplantation embryos to improve IVF outcome
2005
Preimplantation genetic diagnosis (PGD) has transformed the approach to the infertility patient in the IVF setting. Although the principal applications of PGD have been to prevent the transmission of sex-linked diseases, in time and with growing knowledge of the chromosomal abnormalities observed in preimplantation embryos, its applications have widened. Nowadays, apart from its implications in the prevention of transmission of chromosomal and genetic abnormalities, PGD is being used with increased frequency to improve the IVF outcome in patients with advanced maternal age (or =38 years of age), recurrent miscarriage (or =2 miscarriages), recurrent IVF failure (or =3 failed IVF attempts) an…