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女性儿童特殊核型性腺发育不良3例

女性儿童特殊核型性腺发育不良3例
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摘要 女性儿童性腺发育不良包括单纯性腺发育不良和原发性卵巢发育不良（Turner综合征），单纯性腺发育不良是指染色体正常的性腺发育不良，Turner综合征是指由于全部或部分体细胞中1条X染色体完全或部分缺失引起的卵巢发育不良。
作者 吴海瑛 陈临琪 王红英 何亚香
机构地区 苏州大学附属儿童医院内分泌科 苏州大学附属儿童医院检验科
出处 《中国实用儿科杂志》 CSCD 北大核心 2010年第1期71-73,共3页 Chinese Journal of Practical Pediatrics
关键词 性腺发育不良 特殊核型 临床表现 性激素 gonadal dysgenesis special karyotype clinical manifestation sex hormone
分类号 R72 [医药卫生—儿科]
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参考文献13

  • 1刘丽,梁雁.卵巢发育异常[M}//颜纯,王慕逖.小儿内分泌学.2版.北京:人民卫生出版社,2006:348.
  • 2于宝生,汪晓珑,王学芳,张永泉,李芝,陈彩霞.Turner综合征的临床与实验检查研究[J].中国优生与遗传杂志,2004,12(2):41-42. 被引量：6
  • 3Nucarn AL, Melis P, Casini MR, el al. Turner syndrome mosaicism: an unusual case with a de novo large dicentrie marker chromosome: mos 45, X/46, X, ter tea ( X;X ) ( p22. 3:p22. 3 ) [ J ]. J Applied genet, 2008,49 ( 3 ) :301-303.
  • 4Shcheloehkov OA, Cooper ML, Ou Z, et al. Mosaicism for r (X) and der(X)del(X ) (p11.23)dup(X ) (p11.21p11.22) provides insight into the possible mechanism of rearrangement [J].Mol Cytogenet, 2008,1 ( 1 ):16.
  • 5偶健,李红,陈瑛,钟红菱,段程颖,王丽娟.46，X，der（X）一例[J].中华医学遗传学杂志,2008,25(4):486-486. 被引量：1
  • 6许薇,孙晓玲,沈楠,张丽.Turner综合征中同种核型不同的临床表现[J].中国优生与遗传杂志,2005,13(3):49-50. 被引量：6
  • 7Clement-Jones M, Schiller S, Ran E, et al. The shorl stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome [J]. Human Mol Genet, 2000,9 (5) : 695-702.
  • 8Binder G, Schwarze P, Ranke MB. Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growlh hormone [ J ]. Clin Endocrinol Metab, 2000,85 ( 1 ) : 245-249.
  • 9Schoemaker M J, Swerdlow AJ, Higgins CD, et al. Cancer incidence in women with Turner syndrome in Great Britain:a national cohort study [ J ]. Lancet Oncol, 2008,9 : 193-195.
  • 10Maggio MC, Liotta A, De-Grazia E, et al. Polycysitic ovary and gonadoblasloma in Turner syndrome [J ]. Minerva Pediatr, 2007, 59 : 397-401.

二级参考文献30

  • 1[1]Greulich ww, Pyle SI. Radiographic atlas of skeletal development of hand and wrist[M] . 2nd. California: Staford University Press, 1959. 63-183.
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  • 10Francoise P, Nadege S, Beatrice T, et al. A new recombinant cell bioassay for ultrasensitive determination of serum estrogenic bioactivity in children[J]. J Clin Endocrinol Metab, 2002, 87(2) :791 - 797,

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中国实用儿科杂志
2010年 第1期

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