Literature DB >> 27910032

Cytogenetic Nomenclature and Reporting.

Marian Stevens-Kroef1, Annet Simons2, Katrina Rack3, Rosalind J Hastings3.   

Abstract

A standardized nomenclature is critical for the accurate and consistent description of genomic changes as identified by karyotyping, fluorescence in situ hybridization and microarray. The International System for Human Cytogenomic Nomenclature (ISCN) is the central reference for the description of karyotyping, FISH, and microarray results, and provides rules for describing cytogenetic and molecular cytogenetic findings in laboratory reports. These laboratory reports are documents to the referring clinician, and should be clear, accurate and contain all information relevant for good interpretation of the cytogenetic findings. Here, we describe guidelines for cytogenetic nomenclature and laboratory reports for cytogenetic testing applied to tumor samples.

Entities:  

Keywords:  Diagnostic reports; FISH; Karyotyping; Microarray; Nomenclature

Mesh:

Year:  2017        PMID: 27910032     DOI: 10.1007/978-1-4939-6703-2_24

Source DB:  PubMed          Journal:  Methods Mol Biol        ISSN: 1064-3745


  19 in total

Review 1.  The role of junctophilin proteins in cellular function.

Authors:  Stephan E Lehnart; Xander H T Wehrens
Journal:  Physiol Rev       Date:  2022-01-10       Impact factor: 37.312

2.  CytoGPS: A large-scale karyotype analysis of CML data.

Authors:  Zachary B Abrams; Suli Li; Lin Zhang; Caitlin E Coombes; Philip R O Payne; Nyla A Heerema; Lynne V Abruzzo; Kevin R Coombes
Journal:  Cancer Genet       Date:  2020-10-02

3.  Chromosome 10 abnormality predicts prognosis of neuroblastoma patients with bone marrow metastasis.

Authors:  Chi-Yi Jiang; Xiao Xu; Bing-Lin Jian; Xue Zhang; Zhi-Xia Yue; Wei Guo; Xiao-Li Ma
Journal:  Ital J Pediatr       Date:  2021-06-09       Impact factor: 2.638

4.  Interoperable genetic lab test reports: mapping key data elements to HL7 FHIR specifications and professional reporting guidelines.

Authors:  Aly Khalifa; Clinton C Mason; Jennifer Hornung Garvin; Marc S Williams; Guilherme Del Fiol; Brian R Jackson; Steven B Bleyl; Gil Alterovitz; Stanley M Huff
Journal:  J Am Med Inform Assoc       Date:  2021-11-25       Impact factor: 7.942

5.  Identify latent chromosomal aberrations relevant to myelodysplastic syndromes.

Authors:  Qibin Song; Yuxin Chu; Yi Yao; Min Peng; Weihong Yang; Xiaoqing Li; Shiang Huang
Journal:  Sci Rep       Date:  2017-09-04       Impact factor: 4.379

6.  Non-invasive Prenatal Diagnosis of Chromosomal Aneuploidies and Microdeletion Syndrome Using Fetal Nucleated Red Blood Cells Isolated by Nanostructure Microchips.

Authors:  Chun Feng; Zhaobo He; Bo Cai; Jianhong Peng; Jieping Song; Xuechen Yu; Yue Sun; Jing Yuan; Xingzhong Zhao; Yuanzhen Zhang
Journal:  Theranostics       Date:  2018-02-02       Impact factor: 11.556

7.  Potential influence of parental copy number variations on noninvasive prenatal testing (NIPT): two case reports.

Authors:  Yiming Qi; Jiexia Yang; Yaping Hou; Rong Hu; Dongmei Wang; Haishan Peng; Aihua Yin
Journal:  Mol Cytogenet       Date:  2020-05-25       Impact factor: 2.009

8.  [Association of maternal age with fetal sex chromosome aneuploidies].

Authors:  Yu Lei; Minyue Dong
Journal:  Zhejiang Da Xue Xue Bao Yi Xue Ban       Date:  2019-06-25

9.  Case Report: Identification of Maternal Low-Level Mosaicism in the Dystrophin Gene by Droplet Digital Polymerase Chain Reaction.

Authors:  Pengzhen Jin; Xiaoyang Gao; Miaomiao Wang; Yeqing Qian; Jingjin Yang; Yanmei Yang; Yuqing Xu; Yanfei Xu; Minyue Dong
Journal:  Front Genet       Date:  2021-07-01       Impact factor: 4.599

10.  Mesenchymal stromal cells from myelodysplastic and acute myeloid leukemia patients display in vitro reduced proliferative potential and similar capacity to support leukemia cell survival.

Authors:  Giulia Corradi; Carmen Baldazzi; Darina Očadlíková; Giovanni Marconi; Sarah Parisi; Nicoletta Testoni; Carlo Finelli; Michele Cavo; Antonio Curti; Marilena Ciciarello
Journal:  Stem Cell Res Ther       Date:  2018-10-25       Impact factor: 6.832

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