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染色体基因芯片分析技术在不明原因智力落后诊断中的应用——附500例基因芯片结果分析 被引量：3

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摘要 近年来．染色体基因芯片分析技术（Chromos-mal Microarray Analysis。CMA）随着技术的革新和通量的增加．逐步从科研领域走向临床诊断。2010年美国医学遗传医学学会发布了关于CMA在出生后缺陷中的临床应用指南111．提出CMA可代替染色体核型分析检测．作为不明原因的发育迟缓（智力损害）、多发畸形、非明显综合征及临床怀疑染色体病患儿的首选检测手段。随着该指南的颁布，欧洲、日本、新加坡、韩国也相继发布了指南，推荐CMA作为首选检测代替染色体核型分析技术。2011年，加拿大妇产科医师协会又发布了产前诊断的基因芯片应用指南。随着各国指南的发布，目前染色体基因芯片分析技术已广泛被临床实验室所认可．成为相关适应证在产前和产后领域的首选诊断检测技术。
作者 余永国
机构地区 上海交通大学医学院附属上海儿童医学中心
出处 《诊断学理论与实践》 2013年第4期387-389,共3页 Journal of Diagnostics Concepts & Practice
基金 上海浦江人才计划资助(13PJ1406200) 上海科委重大科技攻关项目(11dz1950300) 国家自然科学基金项目(81000346) 上海交通大学医工交叉项目(YG-2011-MS28)
关键词 染色体基因芯片分析 遗传疾病 基因诊断
分类号 R722.11 [医药卫生—儿科]
  • 相关文献

参考文献9

  • 1Manning M, Hudgins L; Professional Practice and Guidelines Committee. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalitie [J]. Genet Med,2010,12(11):742-745.
  • 2Novelli A, Grati FR, Ballarati L, et al. Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Societyof Human Genetics (SIGU), November 2011[J]. Ultrasound Obstet Gynecol,2012,39(4):384-388.
  • 3Takahashi N, Satoh Y, Kodaira M, et al. Large-scale copy number variants (CNVs) detected in different ethnic human populations[J]. Cytogenet Genome Res,2008,123(1- 4):224-233.
  • 4Seo EJ. Clinical Applications of chromosomal microarray analysis[J]. J Gene Med,2010,7(2): 111-118.
  • 5Duncan A, Langlois S. Use of array genomic hybridization technology in prenatal diagnosis in Canada [J]. J Obstet Gynaecol Can,2011,33(12):1256-1259.
  • 6Lichtenbeh KD, Knoers NV, Schuring-Blom GH. From karyotyping to array-CGH in prenatal diagnosis[J]. Cyto- genet Genome Res,2011,135(3-4):241-250.
  • 7Baumbusch LO, Aarce J, Johansen FE, et al. Comparison of the Agilent, ROMA/NimbleGen and I11umina platforms for classification of copy number alterations in human breast tumors[J]. BMC Genomics,2008,9:379.
  • 8Bullinger L, Frhling S. Array-based cytogenetic approaches in acute myeloid leukemia: clinical impact and biological insights[J]. Semin 0ncol,2012,39(1):37-46.
  • 9姚如恩,沈永年,应大明,殷蕾,黄荣魁,周云芳,金星明,傅启华,余永国.多发畸形和（或）不明原因智力落后患者全基因组芯片扫描结果分析[J].中华检验医学杂志,2013,36(2):183-185. 被引量：4

二级参考文献9

  • 1Hochstenbach R, Buizer-Voskamp JE, Vorstman JA, et al. Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research. Cytogenet Genome Res, 2011, 135 : 174-202.
  • 2Duncan A, Langlois S, SOGC Genetics Committee. Use of arraygenomic hybridization technology in prenatal diagnosis in Canada. J Obstet Gynaecol Can, 2011, 33:1256-1259.
  • 3Courtens W, Wuyts W, Rooms L, et al. A subterminal deletion of the long arm of chromosome 10 : a clinical report and review. Am J Med Genet A, 2006,140:402409.
  • 4Semerci CN, Cinbis M, Ullmann R, et al. Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46, XX, der(6)t ( 6 ; 12 ) ( p25.3 ; q24.31 ) karyotype : Phenotypic overlap with Mutchinick syndrome. Am J Med Genet A, 2010, 152: 1724- 1729.
  • 5Nielsen J, Friedrich U, Hreidarsson AB, et al. Frequency and segregation of 16qh plus. Clin Genet, 1974, 5:316-321.
  • 6Friedrieh U, Therkelsen AJ. An attempt to define lqh + , 9qh + , and 16qh +. Hum Genet, 1982, 60:139-144.
  • 7Garcia-Linares C, Fern6ndez-Rodriguez J, Terribas E, et al. Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1 -associated neurofibromas : importance of copy neutral LOH. Hum Mutat,2011,32 :78-90.
  • 8Bullinger L, Frohling S. Array-based cytogenetic approaches in acute myeloid leukemia: clinical impact and biological insights. Semin Oncol,2012,39:37-46.
  • 9Blenner S, Reddy A, Augustyn M. Diagnosis and management of autism in childhood. BMJ,2011,21:894-899.

共引文献3

同被引文献40

  • 1Stankiewicz P, Beaudet Air. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation[J]. Curr Opin Genet Dev, 2007, 17: 182-192.
  • 2Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies[J]. AmJ HumGenet, 2010, 86: 749-764.
  • 3Coulter ME, Miller DT, Harris DJ, et al. Chromosomal microarray testing influences medical management [J]. Genet Med, 2011, 13: 770-776.
  • 4Zollino M, Murdolo M, Marangi G, et al. On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: Genotype-phenotype correlation analysis of 80 patients and literature review[J]. Am J Med Genet C Semin Med Genct, 2008, 148C: 257-269.
  • 5Tropeano M, Andrieux J, Collier DA. Clinical utility gene card for: 16p13. 11 microdeletion syndrome[J]. Eur J Hum Genet, 2013, e1-4.
  • 6Picketing DL, Eudy JD, Olney AH, et al. Array-based comparative genomic hybridization analysis of 1176 consecutive clinical genetics investigations[J]. Genet Med, 2008, 10: 262- 266.
  • 7Shaffer LG, Kashork CD, Saleki R, et al. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases[J]. J Pediatr, 2006, 149: 98-102.
  • 8Gong X, Jiang YW, Zhang X, et al. High proportion of 22q13 deletions and SHANK3 mutations in Chinese patients with intellectual disability[J]. PIoS One, 2012, 7: e34739.
  • 9Ravnan JB, Tepperberg JH, Papenhausen P, et al. Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities[J]. J Med Genet, 2006, 43: 478-489.
  • 10Higurashi M, Oda M, Iijima K, et al. Livebirth prevalence and follow-up of malformation syndromes in 27,472 newborns[J]. Brain Dev, 1990, 12: 770-773.

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诊断学理论与实践
2013年 第4期

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