نتایج جستجو برای: conventional cytogenetics

تعداد نتایج: 267820  

Journal: :Blood 1991
A P Losada M Wessman M Tiainen A H Hopman H F Willard F Solé M R Caballín S Woessner S Knuutila

Interphase cytogenetics by means of in situ hybridization with the chromosome 12-specific biotinylated alpha satellite DNA probe pSP 12-1 was used for the study of trisomy 12, the most common chromosomal abnormality in chronic lymphocytic leukemia. In situ hybridization was performed on methanol/acetic acid fixed cells of conventional cytogenetic preparations from eight patients and on morpholo...

2011
Jun Nishio

Over the last 20 years, a number of tumor-specific chromosomal translocations and associated fusion genes have been identified for mesenchymal neoplasms including adipocytic tumors. The addition of molecular cytogenetic techniques, especially fluorescence in situ hybridization (FISH), has further enhanced the sensitivity and accuracy of detecting nonrandom chromosomal translocations and/or othe...

Journal: :Blood 2011
Mikkael A Sekeres Holly Gundacker Jeffrey Lancet Anjali Advani Stephen Petersdorf Jane Liesveld Deborah Mulford Tom Norwood Cheryl L Willman Frederick R Appelbaum Alan F List

Older acute myeloid leukemia (AML) patients with a chromosome 5q deletion have poor outcomes with conventional chemotherapy. This phase 2 study explored the safety and efficacy of single-agent lenalidomide in previously untreated older AML patients with del(5q) who declined standard chemotherapy. Patients were treated with lenalidomide 50 mg daily for 28 days as induction therapy and 10 mg dail...

Journal: :Cancer cytopathology 2010
Michael H Roh Paola Dal Cin Stuart G Silverman Edmund S Cibas

BACKGROUND Percutaneous fine-needle aspiration (FNA) cytology is an important diagnostic test for the evaluation and management of selected renal masses. Cytogenetic analysis of cytology specimens can serve as an adjunct for precise classification because certain tumors are associated with specific chromosomal aberrations. This study summarizes our experience with the application of conventiona...

Journal: :Blood 1996
J A Garcia-Marco C Caldas C M Price L M Wiedemann A Ashworth D Catovsky

Chronic lymphocytic leukemia (CLL) has consistent 13q chromosomal abnormalities detected by conventional cytogenetics. Using interphase cytogenetics we show deletion of a 1-megabase 13q12.3 locus, encompassing the BRCA2 gene, in 80% of 35 CLL cases studied. Homozygous deletion of BRCA2, located within the minimal deletion consensus, was detected in a significant population of cells in 60% of th...

2017
Berardo Rinaldi Alessandro Vaisfeld Sergio Amarri Chiara Baldo Giuseppe Gobbi Pamela Magini Erto Melli Giovanni Neri Francesca Novara Tommaso Pippucci Romana Rizzi Annarosa Soresina Laura Zampini Orsetta Zuffardi Marco Crimi

BACKGROUND Ring chromosome 14 syndrome is a rare chromosomal disorder characterized by early onset refractory epilepsy, intellectual disability, autism spectrum disorder and a number of diverse health issues. RESULTS The aim of this work is to provide recommendations for the diagnosis and management of persons affected by ring chromosome 14 syndrome based on evidence from literature and exper...

Journal: :Proceedings of the Royal Society of Medicine 1968

Journal: :American Journal of Physical Anthropology 1983

Journal: :medical journal of islamic republic of iran 0
seyed mojtaba mohaddes department of medical genetics, faculty of medicine, tabriz university of medical sciences, tabriz, iranسازمان اصلی تایید شده: دانشگاه علوم پزشکی تبریز (tabriz university of medical sciences) shohreh shargh simin tagavi

abstract  background: mosaic form of turner syndrome that represented by two or more  cell lines in an affected individual, often has limitation for detection with classical  cytogenetic methods. the present study was carried out to compare the efficiency of  interphase fluorescence in situ hybridisation (fish) and cytogenetic techniques in  detection of mosaic form of turner syndrome.  methods...

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