1 颜纯,王慕逖.小儿内分泌学.北京:人民卫生出版社,2006,104-130. 2 Jean MJ,Aneet S,Michael S.人类细胞基因组学国际命名体系(ISCN2016)(中文版),2016. 3 许文萍,余亮,谢磊,等.新疆地区33例特纳氏综合征患儿临床及染色体核型分析.医学信息,2015,28:34. 4 Mazzaschi RL,Taylor J,Robertson SP,et al.A Turner syndrome patient carrying a mosaic distal X chromosome marker.Case Rep Genet,2014,2014:597314. 5 Hook EB,Warburton D.Turner syndrome revisited:review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line,implying an origin by mitotic loss.Hum Genet,2014,133:417-424. 6 Zinn AR,Tonk VS,Chen Z,et al.Evidence for a Turner syndrome locus or loci at Xpll.2-p22.1 rJ3.Am J Hum Genet,1998,63:1757-1766. 7 Schlessinger D,Herrera L,Crisponi L,et al.Genes and translocations involved in POF.Am J Med Genet,2002,111:328-333. 8 Liehr T,Weise A.Frequency of small supemumerary marker chromosomes in prenatal,newbom,developmentally retarded and infertility diagnostics.Int J Mol Med,2007,19:719-731. 9 叶志纯,蔡建光,祝兴元,等.45,X/46,X,+mar核型Turner综合征患儿额外小标记染色体来源和形态研究.中华医学遗传学杂志,2009,26:461-464. 10 Tartaglia NR,Howell S,Sutheland A,et al.A review of trisomy X(47,XXX).Orphanet J Rare Dis,2010,5:8. 11 Liebezeit BU,Rohrer TR,Singer H,et al.Tall stature as presenting symptom in a girl with triple X syndrome.J Pediatr Endocrinol Metab,2003,16:233-235.