• Chromosome 1p36 deletion syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings. (nih.gov)
  • Complete or partial loss of chromosome 7 is a recurrent cytogenetic abnormality that may be observed in both de novo and therapy-related hematopoietic disorders. (atlasgeneticsoncology.org)
  • It predominantly presents as monosomy 7 or deletion of the long arm of chromosome 7, often associated with an unfavorable prognosis. (atlasgeneticsoncology.org)
  • Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. (orpha.net)
  • Diagnosis requires cytogenetic analysis and molecular characterization and should include a search for a translocation because deletion may be the result of transmission of a derivative chromosome. (orpha.net)
  • Clinical impact of the clone size in MDS cases with monosomy 7 or 7q deletion, trisomy 8, 20q deletion and loss of Y chromosome. (librepathology.org)
  • A BM cytogenetic study revealed the following chromosome abnormalities: 46,XX,+1,der(1;18)(q10;q10)[5]/46,XX[15] (Fig. 1B). (dsmc.or.kr)
  • 2) 19q13/19p13, to detect deletion of chromosome 19q or monosomy 19. (ohsu.edu)
  • 4) PTEN/CEP 10, to detect deletion of chromosome 10q or monosomy 10. (ohsu.edu)
  • Monosomy (2n-1) - one chromosome: Only one member in the pair of homologous chromosomes. (web-formulas.com)
  • Translocations involving immunoglobulin (Ig) loci and chromosome 13 monosomy (Δ13) are frequent cytogenetic findings in multiple myeloma (MM). Similar chromosomal aberrations have been identified in the monoclonal gammopathy of undetermined significance (MGUS), but their prevalence and significance remain uncertain. (elsevierpure.com)
  • Large-scale cytogenetic surveys show that almost 30% of horses with reproductive or developmental problems have chromosome aberrations, whereas abnormal karyotypes are found in only 2-5% of the general population. (tamu.edu)
  • However, all surveys agree that there are two recurrent conditions: X-monosomy and SRY-negative XY male-to-female sex reversal, making up approximately 35% and 11% of all chromosome abnormalities, respectively. (tamu.edu)
  • ABSTRACT This study examined haematopoietic stem cells of 19 high-risk cases of myelodysplastic syndrome (MDS) for apoptotic and anti-apoptotic signals and cellular proliferation and correlated these with clinical and cytogenetic subtypes, particularly trisomy 8. (who.int)
  • Trisomy 8 (+ 8) was the most common cytogenetic abnormality (n = 14) followed by del 17p (n = 9) and monosomy 7 (− 7) (n = 7). (biomedcentral.com)
  • Our data betokened that among our MDS patients, Trisomy 8 is the predominant cytogenetic abnormality, and MDS-MLD and MDS-SLD are the most common of subtypes. (biomedcentral.com)
  • Mostly, these translocations are unbalanced and accompanied by genomic imbalances, such as trisomy and monosomy of each whole-arm of the 2 involved chromosomes. (dsmc.or.kr)
  • With unbalanced der(1;18)(q10;q10) translocations, either trisomy 1q or monosomy 18p has been suggested to contribute to leukemogenesis. (dsmc.or.kr)
  • A fraction of these patients, in particular those displaying trisomy 8 or monosomy 7, are at risk of developing a myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). (lu.se)
  • Surprisingly, germline variants in SAMD9 or SAMD9L were present in 17% of primary MDS patients, and these variants were routinely lost in the tumor cells by chromosomal deletions (e.g., monosomy 7) or copy number neutral loss of heterozygosity (CN-LOH). (nature.com)
  • Monosomy 1p36 is the most common subtelomeric chromosomal deletion linked to mental retardation and seizures. (biomedcentral.com)
  • High-risk features included secondary AML and a chromosomal defect known as monosomy 7 (n = 1), chemotherapy induction failure (n = 1), and AML in relapse (n = 2). (salesandmarketingnetwork.com)
  • Examples of recurrent chromosomal imbalances include well characterised conditions such as the common trisomies, which can be studied by classical cytogenetic techniques. (bmj.com)
  • Clinical cytogenetic studies in horses have been ongoing for over half a century and clearly demonstrate that chromosomal disorders are among the most common non-infectious causes of decreased fertility, infertility, and congenital defects. (tamu.edu)
  • Heterogeneity of these cytogenetic abnormalities makes it difficult to determine how to approach patients from a treatment standpoint. (biomedcentral.com)
  • When considering treatment of acute myeloid leukemia (AML), response to induction therapy and specific cytogenetic abnormalities such as t(8;21), inv(16), NPM, CEBPα, FLT3/ITD+, monosomy 7, monosomy 5, and del5q are the mainstays used to determine risk-directed therapy. (biomedcentral.com)
  • The impact on prognosis is known for some cytogenetic abnormalities such as t(8;21), inv(16), and t(15;17), but other abnormalities are rare and their significance difficult to ascertain [ 1 ]. (biomedcentral.com)
  • Although neuropsychiatric abnormalities are pivotal phenotypes in monosomy 1p36, their pathogenesis remains poorly understood. (biomedcentral.com)
  • cytogenetic abnormalities, the most et al. (who.int)
  • Myelodysplastic syndrome (MDS), a heterogeneous group of hematopoietic malignancy, has been shown to present different cytogenetic abnormalities, risk factors, and clinico-hematological features in different populations and geographic areas. (biomedcentral.com)
  • A normal karyotype was observed in 59 patients (57.3%), while 44 patients (42.7%) had cytogenetic abnormalities. (biomedcentral.com)
  • Evaluation of cytogenetic abnormalities is useful in the diagnosis of MDS and crucial in determining the prognosis [ 8 ]. (biomedcentral.com)
  • However, clinical symptoms, cytogenetic abnormalities, and the disease's pathophysiology are dissimilar in different populations and vary greatly in different geographic areas. (biomedcentral.com)
  • Patients with COBL-r are mostly classified as intermediate cytogenetic risk and frequently harbor ETV6, PAX5, CDKN2A/B deletions. (uni-frankfurt.de)
  • Cytogenetic characterization of the paraben-treated cells demonstrated telomere shortening associated with telomere loss and telomere deletions in L5178Y and TK6 cells and lymphocytes of the paraben sensitive-donor. (metasystems-probes.com)
  • Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation. (nih.gov)
  • The molecular findings include monosomy 7 on a background of NF1. (cambridgemedicine.org)
  • Overall, based on this classification, well over 50% of patients with AML are now classifiable by cytogenetic and molecular genetic characteristics. (altmeyers.org)
  • The in vitro cytogenetic effects of the 43-kDa molecular mass exocellular glycoproteic component (GP 43) from Paracoccidioides brasiliensis were studied in cultures from human lymphocytes. (uchile.cl)
  • In contrast to chronic myeloid leukemia (CML), different cytogenetic aberrations are found in AML. (altmeyers.org)
  • Consequently, there is a need to characterize the clinical features of such cases and to increase our understanding of the pathogenetic mechanisms underlying the emergence of clonal cytogenetic changes in Ph(-) cells. (lu.se)
  • A Critical Evaluation of Validation and Clinical Experience Studies in Non-Invasive Prenatal Testing for Trisomies 21, 18, and 13 and Monosomy X. (cdc.gov)
  • At initial presentation she had no other cytogenetic findings. (biomedcentral.com)
  • There are numerous other common cytogenetic findings that are not routinely used for risk stratification, including 11q23 rearrangements, despite their prevalence in pediatric AML. (biomedcentral.com)
  • Here we present postmortem neuropathological findings from a 10 year-old girl with monosomy 1p36, who died of respiratory complications. (biomedcentral.com)
  • Monosomy 18p may also contribute to clonal proliferation due to the loss of putative tumor suppressor genes. (dsmc.or.kr)
  • Despite the recent success of tyrosine kinase inhibitors (TKIs) in the treatment of chronic myeloid leukemia (CML), approximately 2-17% of patients develop clonal cytogenetic changes in the Philadelphia-negative (Ph(-)) cell population. (lu.se)
  • Hematological CR was accompanied by complete cytogenetic remission according to conventional cytogenetics in all evaluable cases. (biomedcentral.com)
  • Complete cytogenetic and morphologic remission of AML was seen on follow- up marrow aspirate and biopsy in all patients. (salesandmarketingnetwork.com)
  • The differential diagnosis for patients with distal monosomy 10p should include deletion 22q11 syndrome and other causes of hypoparathyroidism, depending on the phenotype. (orpha.net)
  • Herein, we determined the cytogenetic spectrum and clinico-hematological features of Iranian MDS patients for the first time. (biomedcentral.com)
  • There are many reports from western countries in terms of cytogenetic profiles of MDS patients. (biomedcentral.com)
  • Prenatal diagnosis is feasible and genetic counseling should be proposed and depends on the cytogenetic rearrangement responsible for the deletion ( de novo or translocation). (orpha.net)
  • Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis. (cdc.gov)
  • She subsequently had a relapse of her AML, and her cytogenetics were consistent with a single MLL rearrangement, t(9;11)(p22;q23), in addition to monosomy 7. (biomedcentral.com)
  • Whole-arm translocations are relatively rare cytogenetic aberrations in hematologic malignancies [1]. (dsmc.or.kr)
  • VVe present a case of primary renal SS assessed by standard cytogenetic analysis, which confirms a karyotype that is characteristic of SS as opposed to RCC with or without further genetic aberrations. (the-medical-dictionary.com)
  • This is AML with myelodysplasia-associated cytogenetic alterations, which includes a whole range of unbalanced and balanced aberrations. (altmeyers.org)
  • This case report details a patient with two MLL rearrangements who progressed to more aggressive disease with emergence of a single MLL rearrangement along with monosomy 7. (biomedcentral.com)
  • Acute myeloid leukemia (AML) is a disease with a significant amount of cytogenetic heterogeneity including mixed-lineage leukemia (MLL) gene rearrangements. (biomedcentral.com)
  • Genetic analysis of dasatinib-treated chronic myeloid leukemia rapidly developing into acute myeloid leukemia with monosomy 7 in Philadelphia-negative cells. (lu.se)
  • Given the strong association between monosomy 7 and mutation of genes involved in the RAS pathway in juvenile myelomonocytic leukemia, we also screened for pathogenetic variants in KRAS, NRAS, and PTPN11, but did not detect any changes. (lu.se)
  • Distal monosomy 10p generally occurs de novo or may be associated with a parental translocation. (orpha.net)
  • If primary renal SS is indeed a form of sarcomatoid differentiation that arises from renal cell carcinoma (RCC), then it is reasonable to expect that the t(X;18)(p11.2:q11.2) translocation associated with the SS phenotype would occur within a cytogenetic profile characteristic of the underlying RCC subtype. (the-medical-dictionary.com)
  • Fifteen of the 16 previous cases of primary renal SS were diagnosed using reverse-transcription polymerase chain reaction to detect the SYT-SSX gene fusion transcript caused by the t(X;18) translocation,2,3 whereas in the one remaining case a t(X;18) translocation was identified by cytogenetic analysis but no further karyotypic details were published.2 Therefore, the background cytogenetic profile of these tumors was unknown. (the-medical-dictionary.com)
  • Deletion of 7p, appears to confer increased risk of treatment failure and inferior outcome, same as it observed with monosomy 7 in myeloid malignancies. (atlasgeneticsoncology.org)
  • In the present case report, we present the first neuropathological analysis of brain and spinal cord malformations in monosomy 1p36, from postmortem examination of a girl who died at 10 years of age. (biomedcentral.com)
  • Interphase FISH analysis is not intended to stand alone, but rather to provide supplemental information to routine cytogenetic studies. (ohsu.edu)
  • Genome-wide 500K SNP array analysis of the monosomy 7 clone revealed no acquired submicroscopic copy number changes. (lu.se)
  • RÉSUMÉ La présente étude a examiné les cellules souches hématopoïétiques de 19 cas de syndrome myélodysplasique de haut risque à la recherche de signaux apoptotiques et anti-apoptotiques et de proliférations cellulaires et a établi un lien entre ces derniers et les sous-types cytogénétiques et cliniques, en particulier la trisomie 8. (who.int)
  • Les cas de syndrome myélodysplasique de haut risque avaient un pourcentage nettement supérieur de cellules CD34+ apoptotiques et de survivine+ anti- apoptotiques par rapport aux témoins, en particulier dans les cas atteints de trisomie 8. (who.int)
  • Turner's syndrome is the example of Monosomy. (web-formulas.com)
  • Myelodysplasia-associated cytogenetic alterations. (altmeyers.org)
  • Neuroimaging studies suggest that monosomy 1p36 is associated with brain malformations including polymicrogyria and nodular heterotopia, but the histopathology of these lesions is unknown. (biomedcentral.com)
  • Additionally, ethylene oxide is genotoxic and mutagenic in many in-vitro tests and in-vivo studies in animals, and its cytogenetic effects in lymphocytes of exposed workers provided strong support for its classification in Group 1. (cdc.gov)
  • A retrospective FISH of the day 29 (post-induction) bone marrow aspirate showed that 84% of blasts were positive for monosomy 7. (cambridgemedicine.org)
  • The cytogenetic evaluation was performed using the conventional G banding method on the BM. (biomedcentral.com)
  • Here we describe the case of a patient with CML who developed monosomy 7 in Ph(-) cells during dasatinib therapy. (lu.se)
  • The aim was to identify cellular and cytogenetic markers of prognostic relevance to survival of high-risk MDS cases. (who.int)