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Smisth-Magenis综合征一例报道并文献复习 被引量:6

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摘要 史密斯-马吉利综合征(Smith-Magenis syndrome)是一种罕见的基因疾病,通常患者几乎不知痛为何物。这种疾病由17号染色体异常引起,会影响身体多个部位,导致智力缺陷、面部表情异常、睡眠障碍以及行为问题。病人常见的特征为方脸、眼睛深陷、下颚偏大、鼻梁塌陷。
作者 周满相
出处 《中国优生与遗传杂志》 2016年第3期95-96,共2页 Chinese Journal of Birth Health & Heredity
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参考文献3

  • 1Smith AC, McGavran L, Waldstein G. Deletion of the 17 short arm in zhe two patients with facial clefts and congenital hear disease[J]. Am J Hum Genet, 1982,34 (suppl) :A410.
  • 2Madduri N, Peters SU, Voigt RG, et al.Cognitive behavior profiles in Smith-Magenis syndrome[J]. J Dev Behav Pediatr, 2006,27 : 188-192.
  • 3沈理笑,张劲松,季星,邢娅,胡娟,陶炯,肖冰.Smith-Magenis综合征一例临床及遗传学研究[J].中华儿科杂志,2012,50(3):227-230. 被引量:9

二级参考文献6

  • 1Smith AC,McGavran L,Waldstein G.Deletion of the 17 short arm in the two patients with facial clefts and congenital heart disease.Am J Hum Genet,1982,34(Suppl):A410.
  • 2Edelman EA,Girirajan S,Finucane B,et al.Gender,genotype,and penotype differences in Smith-Magenis syndrome:a metaanalysis of 105 cases.Clin Genet,2007,71:540-550.
  • 3Greenberg F,Lewis RA,Potocki L,et al. Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2).Am J Med Genet,1996,62:247-254.
  • 4Madduri N,Peters SU,Voigt RG,et al. Cognitive and adaptive behavior profiles in Smith-Magenis syndrome. J Dev Behav Pediatr,2006,27:188-192.
  • 5Arron K,Oliver C,Berg K,et al. The prevalence and phenomenology of self-injurious and aggressive behaviour in genetic syndromes.J Intellect Disabil Res,2011,55:109-120.
  • 6Chen KS,Potocki L,Lupski JR.The Smith-Magenis syndrome[del(17) p11.2] :clinical review and molecular advances.Ment Retard Dev Disabil Res Rev,1996,2:122-129.

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