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身材矮小女童969例的染色体核型分析 被引量：2

Chromosome Analysis of 969 Female Children with Short Stature
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摘要 目的分析女童身材矮小细胞遗传学方面的原因。方法对969例身材矮小的女童做外周血染色体检查,采用常规外周血淋巴细胞培养,G显带,油镜下每例计数30个中期分裂相,分析5个核型,对异常核型增加核型分析数,进行核型分析。结果发现异常核型264例,异常率为27.2%。其中45X 77例(29.1%),45X/46XX嵌合76例(28.8%),45X/46Xi(Xq)27例(12.2%),46Xi(Xq)20例(7.6%),46XX/47XXX 9例(3.4%),46X,del(Xp)7例(2.6%),45X/46XY 6例(2.2%)。结论染色体异常是女童身材矮小的一个重要原因,应引起临床医师的高度重视,可作为常规检查。
作者 顾威 石星 张小琼
机构地区 南京医科大学附属南京儿童医院内分泌科 南京医科大学附属南京儿童医院遗传室
出处 《实用儿科临床杂志》 CAS CSCD 北大核心 2012年第8期602-603,共2页 Journal of Applied Clinical Pediatrics
关键词 身材矮小 TURNER综合征 染色体核型分析 女童
分类号 R725.8 [医药卫生—儿科]
  • 相关文献

参考文献8

  • 1杨俊梅,赵鼎,李进香,周莉.88例身材矮小患儿染色体核型分析[J].中国优生与遗传杂志,2011,19(11):41-42. 被引量：2
  • 2张璘,任梅宏,张晓红.46例Turner综合征患者临床特征及染色体分析[J].中国妇产科临床杂志,2010,11(2):128-130. 被引量：9
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二级参考文献10

  • 1祝兴元,赵蕊,叶志纯,范丽民.24例Turner综合征的染色体分析(附一例世界首报核型)[J].中国优生与遗传杂志,2005,13(4):51-51. 被引量：11
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共引文献13

同被引文献27

  • 1张蕊,刘穆军,王卫红.胎儿特纳综合征的超声表现[J].中国超声诊断杂志,2006,7(1):78-79. 被引量：1
  • 2Nielsen J,Wohlert M. Chromosome abnormalities found among 34,910 newborn children:results from a 13-year incidence study in Arhus,Denmark[J].Human Genetics,1991,(01):81-83.
  • 3Carvalho AB,Guerra-Junior G,Baptista MT. Turner syndrome:a pediatric diagnosis frequently made by non-pediatricians[J].Journal de Pedintria,2010,(02):121-125.
  • 4Massa G,Verlinde F,Schepper JD. Trends in age at diagnosis of Turner syndrome[J].Archives of Disease in Childhood,2005,(3):267-268.doi:10.1136/adc.2004.049817.
  • 5S(a)vendahl L,Davenport ML. Delayed diagnoses of Tumer's syndrome:proposed guidelines for change[J].Journal of Pediatrics,2000,(04):455-459.
  • 6Ismail]NA,Eldin Metwaly NS,E1-Moguy FA. Bone age is the best predictor of growth response to recombinant human growth hormone in Turner's syndrome[J].Indian J Hum Genes,2010,(03):119-126.
  • 7Scales R,Weber C. Turner syndrome:do not miss this diagnosis[J].Journal of Pediatric Nursing,2010,(01):66-68.
  • 8Saari A,Sankilampi U,Hannila ML. Screening of Turner syndrome with novel auxological criteria facilitates early diagnosis[J].Journal of Clinical Endocrinology and Metabolism,2012,(11):1-8.
  • 9Bharath R,Unnikrishnan AG,Thampy MV. Turner syndrome and its variants[J].Indian Journal of Pediatrics,2010,(02):193-195.
  • 10Lasaite L,Lasiene D,Lasas L. Cognition,emotions and quality of life in lithuanian girls with Turner syndrome after growth hormone therapy discontinuation[J].Journal of Pediatric Endocrinology and Metabolism,2010,(05):443-450.

引证文献2

二级引证文献8

实用儿科临床杂志
2012年 第8期

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