携带15号额外标记染色体孤独症谱系障碍1例报告

赵建慧, 张雷红, 申桂芝, 苑爱云, 于荣, 侯梅

中国当代儿科杂志 ›› 2015, Vol. 17 ›› Issue (3) : 290-291.

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中国当代儿科杂志 ›› 2015, Vol. 17 ›› Issue (3) : 290-291. DOI: 10.7499/j.issn.1008-8830.2015.03.019
病例报告

携带15号额外标记染色体孤独症谱系障碍1例报告

  • 赵建慧1, 张雷红1, 申桂芝2, 苑爱云1, 于荣1, 侯梅1
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Autistic spectrum disorders associated with chromosome Mar15q11.2: a case report

  • ZHAO Jian-Hui1, ZHANG Lei-Hong1, SHEN Gui-Zhi2, et al
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赵建慧, 张雷红, 申桂芝, 苑爱云, 于荣, 侯梅. 携带15号额外标记染色体孤独症谱系障碍1例报告[J]. 中国当代儿科杂志. 2015, 17(3): 290-291 https://doi.org/10.7499/j.issn.1008-8830.2015.03.019
ZHAO Jian-Hui, ZHANG Lei-Hong, SHEN Gui-Zhi, et al. Autistic spectrum disorders associated with chromosome Mar15q11.2: a case report[J]. Chinese Journal of Contemporary Pediatrics. 2015, 17(3): 290-291 https://doi.org/10.7499/j.issn.1008-8830.2015.03.019

参考文献

[1] 邹小兵, 邓红珠. 美国精神疾病诊断分类手册第5 版“孤独 症谱系障碍诊断标准”解读[J]. 中国实用儿科杂志, 2013, 28(8): 561-563.
[2] 郭辉, 李颖, 许晓娟, 等. 孤独症谱系障碍病因学研究进展[J]. 中国实用儿科杂志, 2013, 28(8): 579-584.
[3] Cook EH Jr, Lindgren V, Leventhal BL, et al. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication[J]. Am J Hum Genet, 1997, 60(4): 928-934.
[4] Schroer RJ, Phelan MC, Michaelis RC, et al. Autism and maternally derived aberrations of chromosome 15q[J]. Am J Med Genet, 1998, 76(4): 327-336.
[5] Menashe I, Larsen EC, Banerjee-Basu S. Prioritization of copy number variation loci associated with autism from AutDB-An integrative multi-study genetic database[J]. PLoS One, 2013, 8(6): e66707.
[6] Depienne C, Moreno-De-Luca D, Heron D, et al. Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders[J]. Biol Psychiatry, 2009, 66(4): 349-359.
[7] Veenstra-Vanderweele J, Christian SL, Cook EH Jr. Autism as a paradigmatic complex geneti disorder[J]. Annu Rev Genomics Hum Genet, 2004, 5: 379-405.
[8] Urraca N, Cleary J, Brewer V, et al. The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature[J]. Autism Res, 2013, 6(4): 268-279.
[9] Coppola A, Ruosi P, Santulli L, et al. Neurological features and long-term follow-up in 15q11.2-13.1 duplication[J]. Eur J Med Genet, 2013, 56(11): 614-618.
[10] Lalande M, Calciano MA. Molecular epigenetics of Angelman syndrome[J]. Cell Mol Life Sci, 2007, 64(7-8): 947-960.
[11] Shao XY, Zhang R, Hu C, et al. Precise microdeletion detection of Prader-Willi syndrome with array comparative genome hybridization[J]. Biomed Environ Sci, 2010, 23(3): 194-198.

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