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P140: A rare phenomenon: Double trisomy rescue detected during clinical SNP microarray testing*

open access: yesGenetics in Medicine Open
Andrea Penton   +4 more
doaj  
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Cytogenetics

Hematology/Oncology Clinics of North America, 1992
Myelodysplastic syndromes (MDS) for a long time were an ill-defined group of disorders, the true nature of which was largely unknown. Because some patients developed acute leukemia, MDS was considered to be potentially premalignant. Cytogenetic investigations in the early 1970s brought the first clear evidence that these disorders were clonal.
C, Mecucci, H, Van den Berghe
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Cytogenetic and molecular cytogenetic findings in lipoblastoma

Cancer Genetics and Cytogenetics, 2008
Lipoblastoma is a rare benign tumor that arises from embryonic adipose tissue and usually occurs in young children. Here, we present a review of available cytogenetic data and the karyotypes of 10 new cases of lipoblastoma, of which 7 could be studied further by fluorescence in situ hybridization (FISH) with regard to the involvement of the PLAG1 gene.
Fredrik Vult von Steyern   +5 more
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Cytogenetics and molecular cytogenetics in prenatal diagnosis

Clinics in Laboratory Medicine, 2003
Prenatal chromosome diagnosis has been a rapidly changing field over the past 10 years for both sampling methodologies and molecular techniques to complement chromosome analysis. This review summarizes current techniques used by the clinician and their risks, and selected aspects of cytogenetic and molecular techniques used by the laboratories.
Allen N. Lamb, Alan E. Donnenfeld
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Cytogenetics and molecular cytogenetics in multiple myeloma

European Journal of Cancer, 2006
Multiple myeloma (MM) is characterized by frequent and complex genomic abnormalities that not only essentially contribute to the pathogenesis of this disease but also reflect its prognostic heterogeneity. There is evidence for two more or less mutually exclusive oncogenic pathways in the early development of clonal plasma cell disorders.
Peter Liebisch, Hartmut Döhner
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Will the new cytogenetics replace the old cytogenetics?

Clinical Genetics, 2004
With the advent of array‐based comparative genomic hybridization technology, the analog cytogenetic analysis that has been used for the past 100 years could be replaced by the quantitative, microarray‐based molecular analysis. Major advantages of the new array‐based cytogenetic technologies are the high resolution and the high throughput.
Harry Ostrer   +2 more
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Cytogenetics and cancer

Current Opinion in Oncology, 2000
Techniques based on fluorescence in situ hybridization (FISH) have bridged the gap between molecular genetics and conventional cytogenetics. Since its introduction in the late 1980s, advanced FISH-based methods have greatly enhanced the cytogenetic analysis of hematopoietic and solid tumors and are rapidly gaining ground in clinical cytogenetic ...
Ankita S. Patel   +2 more
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HUMAN CYTOGENETICS

British Medical Bulletin, 1961
May I begin by recalling that at the Copenhagen Conference five years ago, Tjio and Levan had just published their almost apologetic announcement that they could only find 46 chromosomes in cultured human somatic cells, and Hamerton and I presented evidence that there were 23 bivalents in spermatocytes, not 24.Since that time there has been a very ...
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Cytogenetics of Polyploids

1980
Following Winge’s classic paper on Polyploidy (1), there have been a large number of publications dealing with various aspects of the subject. However, this symposium is probably the first to bring together at one place and at one time so many different viewpoints and disciplines dealing with this subject.
R. C. Jackson, Jane Casey
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Methodologies in cancer cytogenetics and molecular cytogenetics

American Journal of Medical Genetics, 2002
AbstractVarious types of cytogenetic and molecular cytogenetic approaches, including conventional banding, fluorescence in situ hybridization (FISH), fiber‐FISH, comparative genomic hybridization (CGH), matrix array CGH, chromosome microdissection, and microcell‐mediated chromosome transfer are summarized.
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