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使用染色体芯片技术检测Miller-Dicker综合征1例报告 被引量:2

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摘要 1病例资料 患儿,男,1岁1个月,因智力、运动发育落后就诊。患儿系G1P1,足月顺产,出生时无窒息,出生体质量3.4 kg,出生身长不详。患儿出生后半个月内很少睁眼,睡觉时间多。目前抬头不稳,不能独坐,不能独走,
出处 《临床儿科杂志》 CAS CSCD 北大核心 2012年第1期92-92,96,共2页 Journal of Clinical Pediatrics
基金 上海市教育委员会创新行动计划(No.09YZ100) 国家自然科学基金项目(No.81071121)
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  • 2Nagamani SC,Zhang F,Shchelochkov OA,et al.Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms,growth restric-tion,and cognitive impairment[J].J Med Genet,2009,46(12):825-833.
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同被引文献18

  • 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.
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  • 5Tropeano M, Andrieux J, Collier DA. Clinical utility gene card for: 16p13. 11 microdeletion syndrome[J]. Eur J Hum Genet, 2013, e1-4.
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  • 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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