新生儿DiGeorge综合征1例报告

罗开菊, 陈平洋, 李雯

中国当代儿科杂志 ›› 2014, Vol. 16 ›› Issue (9) : 949-951.

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中国当代儿科杂志 ›› 2014, Vol. 16 ›› Issue (9) : 949-951. DOI: 10.7499/j.issn.1008-8830.2014.09.018
病例报告

新生儿DiGeorge综合征1例报告

  • 罗开菊, 陈平洋, 李雯
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DiGeorge syndrome in a neonate

  • LUO Kai-Ju, CHEN Ping-Yang, LI Wen
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罗开菊, 陈平洋, 李雯. 新生儿DiGeorge综合征1例报告[J]. 中国当代儿科杂志. 2014, 16(9): 949-951 https://doi.org/10.7499/j.issn.1008-8830.2014.09.018
LUO Kai-Ju, CHEN Ping-Yang, LI Wen. DiGeorge syndrome in a neonate[J]. Chinese Journal of Contemporary Pediatrics. 2014, 16(9): 949-951 https://doi.org/10.7499/j.issn.1008-8830.2014.09.018

参考文献

[1] Lischner HW, Dacou C, DiGeorge AM.Normal lymphocyte transfer(NLT) test: negative response in a patient with congenital absence of the thymus[J].Transplantation, 1967,5(3): 555-557.
[2] Saitta SC, Harris SE, Gaeth AP, et al.Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion [J].Hum Mol Genet, 2004, 13(4): 417-428.
[3] Botto LD, May K, Fernhoff PM, et al.A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population [J].Pediatrics, 2003, 112(1 Pt 1): 101-107.
[4] Swillen A, Devriendt K, Vantrappen G, et al.Familial deletions of chromosome 22q11: the Leuven experience[J].Am J Med Genet, 1998, 80(5): 531-532.
[5] Gilmour DF, Downey LM, Sheridan E, et al.Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2?[J].Ophthalmology, 2009, 116(8): 1522-1524.
[6] Ryan AK, Goodship JA, Wilson DI, et al.Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study[J].J Med Genet, 1997,34(10): 798-804.

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