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染色体核型检验诊断报告模式专家共识 被引量:20

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摘要 染色体核型检验诊断是通过对染色体数目的计数和对结构的观察、分析,为染色体病、遗传病、重现性遗传学异常的血液肿瘤等疾病的诊断提供有力的形态学证据,使遗传性疾病的患儿可以得到早期发现、早期干预和治疗,对于肿瘤患者疗效评估、预后判断同样具有重要的临床意义。
出处 《中华医学杂志》 CAS CSCD 北大核心 2016年第12期933-936,共4页 National Medical Journal of China
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  • 1Fang M, Storer B, Wood B, et al. Prognostic impact of discordant results from cytogenetics and flow cytometry in patients with acute myeloid leukemia undergoing hematopoietic cell transplantation[J]. Cancer, 2012, 118 (9) :2411-2419. DOl: 10. 1002/cncr. 26539.
  • 2Schwah CJ, Chilton L, Morrison H, et al. Genes commonly deleted in childhood B-cell precursor acute lymphoblastic leukemia: association with cytogenetics and clinical features[J] . Haematologica, 2013, 98 ( 7 ): 1081-1088. DOl: 10. 33241 haematol. 2013. 085175.
  • 3Harrison CJ, Moorman A V, Schwah C, et al. An international study of intrachromosomal amplification of chromosome 21 ( iAMP21 ): cytogenetic characterization and outcome[J] . Leukemia, 2014,28(5):1015-1021. DOl:I0.I038/Ieu.2013. 317.
  • 4Masurekar AN, Parker CA, Shanyinde M, et al. Outcome of central nervous system relapses in childhood acute lymphoblastic leukaemia-prospective open cohort analyses of the ALLR3 trial[J] . PLoS One, 2014, 9 (10) : el08107. DOl: 10. 1371/journal. pone. 0108107.
  • 5Dawson AJ, McGowan-JordanJ, Chemos 1. et al. Canadian College of Medical Geneticists guidelines for the indications, analysis, and reporting of cancer specimens[J]. Curr Oneol, 2011, 18 ( 5) : e250-e255.
  • 6Claustres M, Kosich V, Dequeker E, et al. Recommendations for reporting results of diagnostic genetic testing (biochemical , cytogenetic and molecular genetic)[J] . EurJ Hum Genet, 2014, 22(2) : 160-170. DOl: 10. 1038/ejhg. 2013.125.
  • 7Szymaflska K, Szczaluba K, Lugowska A, et al. The analysis of genetic aherrations in children with inherited neurometaholic and neurodevelopmental disorders[J], Biomed Res Int, 2014, 2014: 424796. DOl:I0.115512014/424796.
  • 8Segers H, van den Heuvel-Eibrink MM, Williams RD, et al. Gain of 1 q is a marker of poor prognosis in Wilms' tumors[J] . Genes Chromosomes Cancer, 2013, 52 ( 11 ) : 1065-1074. DOl: 10.1002/gcc.22101.
  • 9Wolff OJ, VanDyke DL, Powell CM. Lahoratory guideline for Turner syndrome[J]. Genet Med, 2010, 12(1) :52-55. DOl: 10. 1097/GIM.Ob013e3181c684b2.
  • 10Hussain IT, Nguyen EP, Raza S, et al. Sole abnormalities of chromosome 7 in myeloid malignancies: spectrum, histopathologic correlates, and prognostic implications[J] . AmJ Hematol, 2012, 87(7) :684-686. D0I:10.1002/ajh.23230.

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