[1] Ford CE,Jones KW,Polani PE,et al.A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome)[J].Lancet,1959,1(7075):711-713. [2] Nielsen J,Wohlert M.Chromosome abnormalities found among 34,910 newborn children:results from a 13-year incidence study in Arhus,Denmark[J].Hum Genet,1991,87(1):81-83. [3] 陈红珊,杜敏联,苏蕴韵,等.253例中国Turner综合征患者的自然生长曲线[J].中华儿科杂志,2001,29(03):141-144. [4] De Sanctis V,Tosetto I,Iughetti L,et al.The SHOX gene and the short stature.Roundtable on diagnosis and treatment of short stature due to SHOX haploinsufficiency:how genetics,radiology and anthropometry can help the pediatrician in the diagnostic process Padova (April 20th,2011)[J].Pediatr Endocrinol Rev,2012,9(4):727-733. [5] Marchini A,Marttila T,Winter A,et al.The short stature homeodomain protein SHOX induces cellular growth arrest and apoptosis and is expressed in human growth plate chondrocytes[J].J Biol Chem,2004,279(35):37103-37114. [6] Auada MP,Cintra ML,Puzzi MB,et al.Scalp lesions in Turner syndrome:a result of lymphoedema?[J].Clin Dysmorphol,2004,13(3):165-168. [7] 冯晓,李红.胎儿颈部淋巴水囊瘤与染色体核型异常的关联分析[J].中国血液流变学杂志,2012,22(2):295-297. [8] 张璟,黄国英,倪祖德,等.4046例染色体检查结果与先天性心脏病关系的回顾性分析[J].中国循证儿科杂志,2009,4,(2):128-134. [9] Loscalzo ML.Association between fetal lymphedema and congenital cardiovascular defects in turner syndrome[J].Pediatrics,2005,115(3):732-735. [10] 朱燕林,倪超,郭立琳.特纳综合征的心血管异常[J].基础医学与临床,2011,31(05):582-585. [11] Chen C,Chien S.Prenatal sonographic features of turner syndrome[J].Journal of Medical Ultrasound,2007,15(4):251-257. [12] Kolialexi A,Anagnostopoulos AK,Papantoniou N,et al.Potential biomarkers for Turner in maternal plasma:possibility for noninvasive prenatal diagnosis[J].J Proteome Res,2010,9(10):5164-5170. [13] 许烨烨,王威,蒋馥蔓,等.无创性产前基因检测胎儿Turner综合征1例并文献复习[J].中国产前诊断杂志:电子版,2012,4(2):42-45. [14] 梁永昌,陈敏,刘严德光,等.产前诊断中常见染色体异常的快速检测与核型分析技术的应用[J].中华妇产科杂志,2007,42(5):348-350. [15] 林少宾,史珊珊,谢英俊,等.胎儿标记染色体及衍生染色体的细胞与分子遗传学研究[J].中华围产医学杂志,2014,17(7):461-467.
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