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Genetic Diagnosis of Chromosomal Congenital Anomalies in Albanian Pediatric Patients by Array CGH.
Open Access Maced J Med Sci
August 2017
Biomedical and Experimental Department, Faculty of Medicine, University of Medicine in Tirana, Tirana, Albania.
Aim: The aim of our study was to identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array CGH) in DNA samples of children in which karyotype results cannot be obtained. The present paper describes the first Albanian experience of an array CGH application.
Material And Methods: The cohort included seven children with developmental delay or intellectual disability, facial dysmorphism and congenital anomalies according to clinical criteria, suggestive of chromosomal anomalies.
Trisomy 8 in leukemia: A GCRI experience.
Indian J Hum Genet
January 2012
Department of Cancer Biology, Cell Biology Division, The Gujarat Cancer and Research Institute, NCH Campus, Asarwa, Ahmedabad, Gujarat, India.
Trisomy of chromosome 8 is frequently reported in myeloid lineage disorders and also detected in lymphoid neoplasms as well as solid tumors suggesting its role in neoplastic progression in general. It is likely to be a disease-modulating secondary event with underlying cryptic aberrations as it has been frequently reported in addition to known abnormalities contributing to clinical heterogeneity and modifying prognosis. Here, we share our findings of trisomy 8 in leukemia patients referred for diagnostic and prognostic cytogenetic assessment.
View Article and Find Full Text PDF[Cytogenetic abnormalities in bone marrow mesenchymal stem cells from patients with myelodysplastic syndrome].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
April 2011
Department of Hematology, Shanghai Sixth People Hospital, Shanghai 200233, China.
This study was aimed to investigate the cytogenetic characteristics of hematopoietic cells (HC) and bone marrow mesenchymal stoma cells (BMMSC) isolated from patients with myelodysplastic syndrome (MDS) and healthy individuals as normal controls, and to clarify whether HC and BMMSC are simultaneously involved and participate in pathogenesis and development of MDS. Both marrows of 22 newly diagnosed patients with MDS and 7 healthy individuals were collected; BMMSC were isolated and amplified by using established culture system, as well as were identified according to morphologic features and surface antigens detected by flow cytometry; the characteristics of BMMSC from MDS patients were analyzed; the BMMSC karyotyping analysis of MDS patients was performed by banding of HC and BMMSC with pancreatin-Giemsa technique (GTG) and in accordance with ISCN (2005) requirements; the cytogenetic characteristics of HC and BMMSC were compared. The results showed that in vitro culture system for isolation and amplification was successfully established.
View Article and Find Full Text PDFNomenclature evolution: Changes in the ISCN from the 2005 to the 2009 edition.
Cytogenet Genome Res
March 2010
Departments of Pediatrics, Human Genetics and Pathology and ARUP Institute for Clinical and Experimental Pathology, University of Utah School of Medicine, Salt Lake City, USA.
The Committee for the International System for Human Cytogenetic Nomenclature (ISCN) has recently met and published a revised version, ISCN 2009. Multiple changes in nomenclature guidelines are presented in that updated version. This review will highlight changes to the idiograms and specific changes in respective chapters of the 2009 version compared with the previous version of the ISCN published in 2005.
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