22-三体综合征2例报告

何雪, 姚丹, 赵正言

中国当代儿科杂志 ›› 2015, Vol. 17 ›› Issue (5) : 524-525.

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中国当代儿科杂志 ›› 2015, Vol. 17 ›› Issue (5) : 524-525. DOI: 10.7499/j.issn.1008-8830.2015.05.022
病例报告

22-三体综合征2例报告

  • 何雪, 姚丹, 赵正言
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Trisomy 22 syndreom: a report of 2 cases

  • HE Xue, YAO Dan, ZHAO Zheng-Yan
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何雪, 姚丹, 赵正言. 22-三体综合征2例报告[J]. 中国当代儿科杂志. 2015, 17(5): 524-525 https://doi.org/10.7499/j.issn.1008-8830.2015.05.022
HE Xue, YAO Dan, ZHAO Zheng-Yan. Trisomy 22 syndreom: a report of 2 cases[J]. Chinese Journal of Contemporary Pediatrics. 2015, 17(5): 524-525 https://doi.org/10.7499/j.issn.1008-8830.2015.05.022

参考文献

[1] Mokate T, Leask K, Mehta S, et al. Non-mosaic trisomy 22: a report of 2 cases[J]. Prenat Diagn, 1996, 26(10): 962-965.
[2] Crowe CA, Schwartz S, Black CJ, et al. Mosaic trisomy 22: a case presentation and literature review of trisomy 22 phenotypes[J]. Am J Med Genet, 1997, 71(4): 406-413.
[3] Tinkle BT, Walker ME, Blough-Pfau RI, et al. Unexpected survival in a case of prenatally diagnosed non-mosaic trisomy 22: Clinical report and review of the natural history[J]. Am J Med Genet A, 2003, 118A(1): 90-95.
[4] 张璘, 张晓红, 宋桂宁, 等. 胎儿染色体异常与不同先天性心脏病的关系研究[J]. 四川大学学报(医学版), 2010, 41(2): 312-315.
[5] Mirza G, Imaizumi K, Ragoussis J. Partial trisomy 22 in a live born resulting from a rearrangement between chromosomes 6 and 22[J]. J Med Genet, 2000, 37(9): E22.
[6] Leclercq S, Baron X, Jacquemont ML, et al. Mosaic trisomy 22: five new cases with variable outcomes. Implications for genetic counselling and clinical management[J]. Prenat Diagn, 2010, 30(2): 168-172.
[7] Werding N, Holland H, Hueckel D, et al. Partial trisomy 22 resulting from rearrangements between chromosomes 11/22 and 16/22: a report of two cases[J]. Acta Paediatrica, 2003, 92(7): 865-868.

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