微阵列技术检测Wolf-Hirschhorn综合征1例报告

doi:10.7499/j.issn.1008-8830.2014.12.019

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中国当代儿科杂志 ›› 2014, Vol. 16 ›› Issue (12) : 1277-1278. DOI: 10.7499/j.issn.1008-8830.2014.12.019

病例报告

微阵列技术检测Wolf-Hirschhorn综合征1例报告

阙丽萍, 梁立阳, 孟哲, 罗向阳, 欧榕琼, 侯乐乐

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Diagnosis of Wolf-Hirschhorn syndrome by array-comparative genomic hybridization in an infant

QUE Li-Ping, LIANG Li-Yang, MENG Zhe, et al

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阙丽萍, 梁立阳, 孟哲, 罗向阳, 欧榕琼, 侯乐乐. 微阵列技术检测Wolf-Hirschhorn综合征1例报告[J]. 中国当代儿科杂志. 2014, 16(12): 1277-1278 https://doi.org/10.7499/j.issn.1008-8830.2014.12.019

QUE Li-Ping, LIANG Li-Yang, MENG Zhe, et al. Diagnosis of Wolf-Hirschhorn syndrome by array-comparative genomic hybridization in an infant[J]. Chinese Journal of Contemporary Pediatrics. 2014, 16(12): 1277-1278 https://doi.org/10.7499/j.issn.1008-8830.2014.12.019

参考文献

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[2] Zollino M, Lecce R, FischeTTo R, eT al. Mapping The Wolf-Hirschhorn syndrome phenoType ouTside The currenTly accenTed WHS criTical region and defining a new criTical region, WHSCR-2[J]. Am J Human GeneT, 2003, 72(3): 590-597.
[3] Wilson MG, Towner JW, Negus LD, eT a1. Wolf-Hirschhorn syndrome associaTed wiTh an unusual abnormaliTy of chromosome no.4[J]. J Med GeneT, 1970, 7: 164-167.
[4] BaTTaglia A, Filippi T, Carey JC. UpdaTe on The clinical feaTures and naTural hisTory of Wolf-Hirschhorn (4p-) syndrome: experience wiTh 87 paTienTs and recommendaTions for rouTine healTh supervision[J]. Am J Med GeneT, ParT C, 2008, 148(4): 246-251.
[5] Verbrugge J, Choudhary AK, Ladda R. TeThered cord, corpus callosum abnormaliTies, and perivenTricular cysTs in Wolf-Hirschhorn syndrome. ReporT of Two cases and review of The liTeraTure[J]. Am J Med GeneT, ParT A. 2009, 149A(10): 2280-2284.
[6] Marshall AT. ImpacT of chromosome 4p. syndrome on communicaTion and expressive language skills: a preliminary invesTigaTion[J]. Lang Speech Hear Serv Sch, 2010, 41(3): 265-276.
[7] 朱春江, 黄志云, 吴维青, 等. 运用多重连接探针扩增和微阵列-比较基因杂交芯片技术诊断父源性Wolf-Hirschhorn综合征一家系[J]. 中华儿科杂志, 2012, 50(6): 460-464.