Results 11 to 20 of about 231,455 (290)
Вопросы современной педиатрии, 2016 The article presents a detailed clinical and molecular and cytogenetic analysis of the unique case of a rare chromosomal abnormality (duplication of 14q11.2-q21.1 and deletion of 21q11.2-q21.3).
Grigory S. Vasilyev +5 more
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Clinics and Practice, 2016 A 41-year old pregnant woman underwent amniocentesis to conduct a conventional karyotyping analysis; the analysis reported an abnormal karyotype: 46,XY,add(9)(p24). Chromosomal microarray analysis (CMA) is utilized in prenatal diagnoses.
Akiko Takashima +2 more
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Chromosomal Abnormalities Detected by Chromosomal Microarray Analysis and Karyotype in Fetuses with Ultrasound Abnormalities [PDF]
International Journal of General MedicineLiubing Lan,1,2 Dandan Luo,1,2 Jianwen Lian,1 Lingna She,1,3 Bosen Zhang,1,3 Hua Zhong,1 Huaxian Wang,1 Heming Wu1 1Department of Prenatal Diagnostic Center, Meizhou People’s Hospital, Meizhou, People’s Republic of China; 2Department of Obstetrics ...
Lan L +7 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
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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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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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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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Women’s experiences of coping with pregnancy\ud termination for fetal abnormality [PDF]
, 2013 Pregnancy termination for fetal abnormality (TFA) can have significant psychological consequences. Most research focus on measuring the psychological outcome of TFA,\ud and little is known about the coping strategies involved.
Lafarge, Caroline +2 more
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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