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18号染色体短臂缺失综合征1例 被引量:4

18号染色体短臂缺失综合征1例
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摘要 18号染色体短臂缺失综合征是由18号染色体短臂部分或令部遗传物质缺失导敛的一组临床综合征,其发病罕见,新生儿中的发病率约为1:50000。本文报道发育迟缓伴腹股沟疝反复发作1例患儿,经染色体核型分析为18号染色体短臂缺失综合征.
出处 《中国实用儿科杂志》 CSCD 北大核心 2011年第6期479-480,共2页 Chinese Journal of Practical Pediatrics
关键词 18号染色体短臂缺失综合征 腹股沟疝 染色体核型 遗传咨询 18p deletion syndrome inguinal hernia chromosome karyotype genetic consult
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参考文献8

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同被引文献67

  • 1律玉强,王兴翠,张开慧,高敏,马健,刘雪梅,盖中涛,刘毅.一例18号环状染色体嵌合体综合征的综合诊断[J].中华医学遗传学杂志,2019,36(10):1010-1014. 被引量:1
  • 2颜华,张惠佳,覃蓉,王跑球,胡继红.18染色体短臂缺失综合征一例[J].中国病案,2004,5(11):46-46. 被引量:2
  • 3解春红,杨建滨,赵正言,龚方戚.18号染色体短臂缺失综合征一例[J].中华医学遗传学杂志,2006,23(4):433-433. 被引量:5
  • 4马金元,马绍武,郭燕霞.18p部分单体综合征一例[J].中国优生与遗传杂志,2007,15(11):63-63. 被引量:2
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  • 9Brenk CH, Prott EC, Trost D, et al. Towards mapping phenotypical traits in 18p-syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation[J].Eur J HumGenet, 2007, 15(1): 35-44.
  • 10Wester U, Bondeson ML, Edeby C, et al. Clinical and molecular characterization of individuals with 18p deletion: a genotype- phenotype correlation[J]. Am J Med Genet A, 2006, 140(11) : 1164-1171.

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