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遗传相关性肌张力低下的诊断进展 被引量：2

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摘要 肌张力低下是婴幼儿时期较为常见的异常临床表现,其由遗传代谢性疾病所致的发生率高。如染色体疾病,如唐氏综合征;微结构缺失染色体疾病如Prader-Willi综合征;单基因疾病,如脊肌萎缩症;代谢性疾病,如苯丙酮尿症;线粒体疾病,如Leigh综合征等。本文就导致婴幼儿肌张力低下的遗传代谢性相关疾病的临床表现、诊断进展等情况做一综述介绍,为临床诊断提供帮助。
作者 詹实娜 何玺玉
机构地区 北京军区总医院附属八一儿童医院临床遗传中心
出处 《中国儿童保健杂志》 CAS 北大核心 2012年第2期151-153,176,共4页 Chinese Journal of Child Health Care
基金 全军面上项目(06BM074)
关键词 肌张力低下 染色体病 线粒体疾病
分类号 R729 [医药卫生—儿科]
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参考文献19

  • 1Marshatl S, Teasell R, Bayona N,et al. Motor impairment rehabilitation post acquired brain injury[J].Brain Inj ,2007,21 (2):133 -160.
  • 2Caine A.Maltby AE,Pakin CA,et al. UK Association Of Clinic cal Cytogenticists(ACC). Prenatal detection of Down:s syndrome by rapid aneupLdiy testing for chromosomes 13,18 a,nd 21 by FISH or :.PCR witheut a full karyotype., a.cytogenetie risk assessrnent[J]. Lancet, 2005,366 : 123-128.
  • 3Rai AK,Singh S,Mehta S,etal. MTHFR C677T and A1298C polymorphisms are risk factors for Down's syndrome in Indian mothers[J].J Hum Genet ,2006,51(4):278-283.
  • 4Acacio GL, Batini R, Bertuzzo CS, et al. Methylenetetra hydrofolate rednctase gene polymorphisms arid their agsociation with trisomy 21 [J]. Prenat Diagn, 2005 ;25 ( 13): 1196-1199.
  • 5Silva L R, Vergani:N Galdieri Lde C,et al Relationship between polymorphisms in genes involved in homocysteine metabolism and maternal risk for Down syndrome in Brazil[J]. Am J Med Oenet A, 2005,135(3) ;263-267.
  • 6Farina A, LeShane ES, Lambert-Messerlian GM, et al. Evaluation of cell free fetal DNA as a second trimester matertal serum arker of Down syndrome pregnancy[J]. Clin Chem, 2003,49:239 242.
  • 7王靖,陈汉平.唐氏综合征高危孕妇血浆游离胎儿DNA的检测[J].中国优生与遗传杂志,2011,19(7):33-34. 被引量：2
  • 8Miller JL,Lynn CH,Driscoll DC,et al. Nutritional phases in Prader Willi syndrome[J]. Am J Med Genet A, 2011,155A (5) : 1040-1049.
  • 9朱丽娜,何玺玉,王春枝,杨晓,刘欣,王蔚,马宁,刘海洪,王艳,封志纯.Prader-Willi综合征的分子遗传学诊断与机制研究[J].山西医科大学学报,2008,39(12):1064-1067. 被引量：7
  • 10Lorson CL, Rindt H, Shababi M. Spinalmuscular atrophy mechanisms and therapeutic strategies[J]. Hum Mog Genet ,2010,19(R1) : 111-118.

二级参考文献16

  • 1Butler JV, Whittington JE, Holland AJ, et al. Prevalence of, and risk factors for, physical ill-health in people with Prader-Willi syndrome: a population-based study [ J ]. Dev Med Child Neurol, 2002,44 : 248 - 255.
  • 2Burd L, Vesely B, Martsolf J, et al. Prevalence study of Prader-Willi syndrome in North Dakota[J]. Am J Med Genet, 1990,37: 97 - 99.
  • 3Gunay-Aygun M, Schwartz S, Heeger S, et al. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria[ J ]. Pediatrics, 2001,108 : E92.
  • 4Frommer M, McDonald LE, Miltar DS, et al. A genomic sequencing protocol that yields a positive display of 5-methylcytosine residues in individual DNA strands[J ]. Prod Natl Acad Sci, 1992, 89:1827 - 1831.
  • 5Cassidy SB. Prader-WliUi syndrome [ J ]. J Med Genet 1997,34 : 917 - 923.
  • 6Cassidy SB, Schwartz S. Prader-Willi and Angelman syndromes: disorders of genomic imprinting [ J ]. Medicine, 1998,77 : 140 - 151.
  • 7Nicholls RD, Saitoh S, Horsthemke B. Imprinting in Prader-Willi and Angelman syndrome[J]. Trends Genet, 1998,14 : 194 - 200.
  • 8Rooms L, Reyniers E, van Luijk R, et al. Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA) [ J ]. Hum Mutat, 2004,23 : 17 - 21.
  • 9Sellner LN, Taylor GR. MLPA and MAPH: New techniques for detection of gene deletions[ J ]. Hum Mutat, 2004,23 : 413 - 419.
  • 10Newberger DS. Down's syndrome: prenatal risk assessment and diag- nosis and diagnosis[ J]. Am Faro Physician, 2000, 62:825 - 832.

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中国儿童保健杂志
2012年 第2期

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