伴生长激素缺乏的18号环状染色体综合征1例

doi:10.7499/j.issn.1008-8830.2014.09.017

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中国当代儿科杂志 ›› 2014, Vol. 16 ›› Issue (9) : 947-948. DOI: 10.7499/j.issn.1008-8830.2014.09.017

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伴生长激素缺乏的18号环状染色体综合征1例

张一宁¹, 帕拉提·热合曼², 杜红伟¹, 王丽杰¹

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Growth hormone deficiency in a girl with ring 18 chromosome syndrome

ZHANG Yi-Ning, Palati REHEMAN, DU Hong-Wei, et al

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张一宁, 帕拉提·热合曼, 杜红伟, 王丽杰. 伴生长激素缺乏的18号环状染色体综合征1例[J]. 中国当代儿科杂志. 2014, 16(9): 947-948 https://doi.org/10.7499/j.issn.1008-8830.2014.09.017

ZHANG Yi-Ning, Palati REHEMAN, DU Hong-Wei, et al. Growth hormone deficiency in a girl with ring 18 chromosome syndrome[J]. Chinese Journal of Contemporary Pediatrics. 2014, 16(9): 947-948 https://doi.org/10.7499/j.issn.1008-8830.2014.09.017

参考文献

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[2] 庄宇, 祁建勤, 杨晓红, 等.18 号环状染色体嵌合体 1 例 [J].中国实验诊断学, 2012, 16(1): 157-158.
[3] 曲琳琳, 王少敏, 王军荣, 等.18 号环状染色体综合征一例[J].中华医学遗传学杂志,2012, 29(1): 99.
[4] 刘康香, 钟燕, 丁大为, 等.基因重组人生长激素治疗 18 号环状染色体综合征疗效分析 [J].医学临床研究, 2013, 30(2):391-393.
[5] 中华医学会儿科学会内分泌遗传代谢学组.矮身材儿童诊治指南 [J].中华儿科杂志, 2008, 46(6): 428-430.
[6] Ghidoni PD, Hale DE, Cody JD, et al.Growth hormone deficiency associated in the 18q- syndrome[J].Am J Med Genet,1997, 69(1): 7-12.
[7] Abusrewil SS, McDermott A, Savage DC.Growth hormone.suspected gonadotrophin deficiency, and ring 18 chromosome[J].Arch Dis Child, 1988, 63(9): 1090-1091.
[8] Meloni A, Boccone L, Angius L, et al.Hypothalamic growth hormone deficiency in a patient with ring chromosome 18[J].Eur J Pediatr, 1994, 153(2): 110-112.
[9] Artman HG, Morris CA, Stock AD.8p- syndrome and hypopituitarism[J].J Med Genet, 1992, 29(9): 671-672.