新生儿复杂染色体畸变1例

吕媛, 朱玲玲, 舒桂华

中国当代儿科杂志 ›› 2016, Vol. 18 ›› Issue (11) : 1181-1182.

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中国当代儿科杂志 ›› 2016, Vol. 18 ›› Issue (11) : 1181-1182. DOI: 10.7499/j.issn.1008-8830.2016.11.024
病例报告

新生儿复杂染色体畸变1例

  • 吕媛, 朱玲玲, 舒桂华
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A case report of neonatal complex chromosomal aberration

  • LV Yuan, ZHU Ling-Ling, SHU Gui-Hua
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吕媛, 朱玲玲, 舒桂华. 新生儿复杂染色体畸变1例[J]. 中国当代儿科杂志. 2016, 18(11): 1181-1182 https://doi.org/10.7499/j.issn.1008-8830.2016.11.024
LV Yuan, ZHU Ling-Ling, SHU Gui-Hua. A case report of neonatal complex chromosomal aberration[J]. Chinese Journal of Contemporary Pediatrics. 2016, 18(11): 1181-1182 https://doi.org/10.7499/j.issn.1008-8830.2016.11.024

参考文献

[1] Kleefstra T,Smidt M,Banning MJ,et al.Disruption of the gene Euchromatin Histone Methyl Transferase1(Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome[J].J Med Genet,2005,42(4):299-306.
[2] Willemsen MH,Beunders G,Callaghan M,et al.Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions[J].Clin Genet,2011,80(1):31-38.
[3] Brisset S,Joly G,Ozilou C,et al.Molecular characterization of partial trisomy 6q24.1-qter:clinical report and review of the literature[J].Am J Med Genet,2002,113(4):339-345.
[4] Maher ER,Willatt L,Cuthbert G,et al.Three cases of 16q duplication[J].J Med Genet,1991,28(11):801-802.
[5] Giardino D,Finelli P,Gottardi G,et al.Cryptic subtelomeric translocation t (2;16)(q37;q24) segregating in a family with unexplained stillbirths and a dysmorphic,slightly retarded child[J].Eur J Hum Genet,2001,9(12):881-886.
[6] Baker E,Hinton L,Callen DF,et al.Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies[J].Am J Med Genet,2002,107(4):285-293.
[7] Zahn S,Ehrbrecht A,Bosse K,et al.Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t (11;16)(q24.2;q24.1)[J].Am J Med Genet A,2005,139(1):19-24.
[8] Ferrero GB,Belligni E,Sorasio L,et al.Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation[J].Am J Med Genet A,2006,140(8):892-894.
[9] 周洋,姚琪,高洪柳,等.16q部分三体患儿合并骨软骨瘤的报道分析[J].医学研究生学报,2013,26(11):1161-1164.


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