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CHROMOSOMAL ABNORMALITIES IN A REFERRED POPULATION: A REPORT OF 383 IRANIAN CASES [PDF]
Acta Medica Iranica, 1998 This report presents the cytogenetic findings (G -banded chromosomal analysis} in 383 cases referred for suspected chromosomal abnormalities because of abnormal clinical features.
M. T. Akbari. +2 more
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Chromosomal abnormalities and schizophrenia [PDF]
American Journal of Medical Genetics, 2000 Schizophrenia is a common and serious psychiatric illness with strong evidence for genetic causation, but no specific loci yet identified. Chromosomal abnormalities associated with schizophrenia may help to understand the genetic complexity of the illness.
A S, Bassett, E W, Chow, R, Weksberg
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Application of chromosome microarray analysis in prenatal diagnosis
BMC Pregnancy and Childbirth, 2020 Background To explore the application value of chromosomal microarray analysis (CMA) in prenatal diagnosis. Methods The results of chromosome karyotype analysis and CMA of 477 cases undergoing amniocentesis were analyzed. The results of the no ultrasound
Mingjing Xia +5 more
doaj +1 more source
A case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes
Molecular Cytogenetics, 2022 Complex chromosomal rearrangements (CCR) are rare chromosomal structural abnormalities. The chromosomal structural variants in CCR carriers are one of the factors contributing to a history of adverse pregnancy and childbirth.
Yan Luo +5 more
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Chromosome abnormalities in neuroblastoma [PDF]
Journal of Clinical Pathology, 1965 The case is briefly reported of a 7-month-old boy with a disseminated neuroblastoma, whose marrow showed neuroblastoma rosettes and on direct examination on two occasions revealed a high proportion of cells with 48 chromosomes forming an abnormal cell line.
D J, BREWSTER, J V, GARRETT
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Analysis of Genomic Copy Number Variation in Miscarriages During Early and Middle Pregnancy
Frontiers in Genetics, 2021 The purpose of this study was to explore the copy number variations (CNVs) associated with miscarriage during early and middle pregnancy and provide useful genetic guidance for pregnancy and prenatal diagnosis.
Heming Wu +9 more
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Epilepsy and chromosomal abnormalities [PDF]
Italian Journal of Pediatrics, 2010 Many chromosomal abnormalities are associated with Central Nervous System (CNS) malformations and other neurological alterations, among which seizures and epilepsy. Some of these show a peculiar epileptic and EEG pattern. We describe some epileptic syndromes frequently reported in chromosomal disorders.Detailed clinical assessment, electrophysiological
Sorge Giovanni, Sorge Anna
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Chromosomal aberrations in transitional cell carcinoma that are predictive of disease outcome are independent of polyploidy [PDF]
, 1999 Objective To determine whether aneusomy for chromosomes 7, 9 and 17 (reported to predict recurrence in up to 65% of patients with superficial transitional cell bladder cancer and thus providing the opportunity for early and effective treatment) reflects ...
Watters, A.D. +4 more
core +1 more source
Cytogenetic findings in patients with intellectual disability and/or multiple congenital anomalies [PDF]
Journal of Analytical Research in Clinical Medicine, 2016 Introduction: Chromosomal abnormalities are a major etiology of intellectual disability (ID) and multiple congenital anomalies (MCAs). Screening for chromosomal aberrations by clinical diagnostic techniques has been primarily performed ...
Sima Derakhshan, Mahmoud Khaniani
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Case Reports in Oncology, 2020 Although tyrosine kinase inhibitors markedly improve the clinical outcome of chronic myeloid leukemia (CML), blast crisis in CML (CML-BC) still has a poor prognosis.
Ryo Yanagiya +7 more
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