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经寡核苷酸微阵列比较基因组杂交技术证实的12号染色体短臂中间缺失的病例报告及文献复习 被引量：2

Interstitial deletion of the short arm of chromosome 12 confirmed by oligonucleotide array-based comparative genomic hybridization:A case report and review of the literature
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摘要 目的 12号染色体短臂中间缺失是罕见的。文中报道1例智力低下,身材矮小,界限性高血压和短指趾畸形的女性患儿经寡核苷酸微阵列比较基因组杂交(oligonucleotide array-based comparative genomic hybridization,OaCGH)技术证实位于12号染色体的p12.2—p11.21区域有11.47Mb中间缺失。方法对患儿进行G显带高分辨染色体核型分析,多色荧光原位杂交及寡核苷酸微阵列比较基因组杂交分析。结果高分辨核型疑12p11.2中间缺失,经多色荧光原位杂交检测未发现有易位存在。寡核苷酸微阵列比较基因组杂交技术显示在12p12.2—p11.21有11.47Mb的缺失,确定患儿核型为46,XX,del(12)(p11.21p12.2).arrcgh12p11.21p12.2(PDE3A->BICD1)×1。在该缺失的区域有注释的基因71个。结论患者特有的表型包括智力低下、界限性高血压、身材矮小和短指趾畸形等均是该区域内基因缺失的结果 。 Objective Interstitial deletions of the short arm of chromosome 12 are rare.We report a girl with the distinctive features of borderline hypertension,baryencephalia,short stature,brachydactyly and interstitial deletion in 12p11.21-12p12.2 confirmed by oligonucleotide array-based comparative genomic hybridization （OaCGH）.Methods The karyotype of the girl was identified by high resolution chromosome karyotype analysis,M-FISH and OaCGH.Results Chromosome analysis of G-banding showed a possible deletion of 12p11.2 in all the metaphases analyzed.OaCGH confirmed an 11.47 Mb interstitial deletion at the genomic position 20724852 bp→32201544 bp in the 12p12.2→12p11.21 region.The final karyotype was interpreted as 46,XX,del（12） （p11.21 p12.2）.arr cgh 12 p11.21p12.2 （PDE3A-BICD1）×1.The deleted region spanned 71 annotated genes.Conclusion The typical features of the patient include baryencephalia,borderline hypertension,short stature,and brachydactyly,which can be attributed to the deletion of the responsible gene or genes in the critical region.
作者 卢洪涌 崔英霞 经卉 夏欣一 史轶超 杨滨 姚兵 戈一峰 梁泉 李晓军 黄宇烽
机构地区 南京军区南京总医院检验医学研究所中心实验科
出处 《医学研究生学报》 CAS 2010年第7期706-709,共4页 Journal of Medical Postgraduates
关键词 12p中间缺失 界限性高血压 短指畸形 寡核苷酸芯片 比较基因组杂交 Partial monosomy 12p Borderline hypertension Brachydactyly Oligonucleotide array Comparative genomic hybridization
分类号 Q343 [生物学—遗传学]
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参考文献16

  • 1Tenconi R,Baccichetti C,Anglani F,et al.Partial deletion of the short arm of chromosome 12(p11;p13)[J].Ann Genet,1975,18(2):95-98.
  • 2Orye E,Craen M.Short arm deletion of chromosome 12:Report of two new cases[J].Humangenetik,1975,28(4):335-342.
  • 3Magenis E,Brown MG,Chamberlin J,et al.Resolution of breakpoints in a complex rearrangement by use of multiple staining techniques:Confirmation of suspected 12p12.3 intraband by deletion dosage effect of LDHB[J].Am J Med Genet,1981,9(2):95-103.
  • 4Boilly-Dartigalongue B,Rivière D,Junien C,et al.A new case of partial monosomy of chromosome 12,del(12)(p11.01 to p12.109) confirming the location of the gene for lactate dehydrogenase B[J].Ann Genet,1985,28(1):55-57.
  • 5Nagai T,Nishimura G,Kato R.Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome[J].Am J Med Genet,1995,55(1):16-18.
  • 6Fryns JP,Kleczkowska A,van den Berghe H,et al.Interstitial deletion of the short arm of chromosome 12.Report of a new patient and review of the literature[J].Ann Genet,1990,33(1):43-45.
  • 7Gl(a)ser B,Rossier E,Barbi G,et al.Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies[J].Am J Med Genet,2003,116A(1):66-70.
  • 8Stumm M,Klopocki E,Gasiorek-Wiens A,et al.Molecular cytogenetic characterisation of an interstitial deletion 12p detected by prenatal diagnosis[J].Prenat Diagn,2007,27(5):475-478.
  • 9崔英霞,夏欣一,卢洪涌,潘连军,邵永,姚兵,戈一峰,王国洪,李晓军,黄宇烽.45,X,der(Y)t(Y;13)不育男性患者的临床细胞和分子遗传学研究[J].医学研究生学报,2008,21(11):1168-1171. 被引量：9
  • 10崔英霞,史轶超,刘琦,夏欣一,卢洪涌,魏丽,姚兵,戈一峰,王国洪,李晓军,黄宇烽.无性腺症患者合并Y染色体结构重排的临床及细胞分子遗传学分析[J].医学研究生学报,2010,23(1):57-62. 被引量：1

二级参考文献41

  • 1冷伟卫,李金恒,曹晓梅,朱志远.一种检测N-乙酰基转移酶2多态性的新方法[J].医学研究生学报,2006,19(6):482-486. 被引量：7
  • 2崔英霞,夏欣一,郝丽君,潘连军,王国洪,王云华,梁泉,黄宇烽.1例与Y染色体畸变相关的无性腺症、矮身材和蹠骨畸形[J].中华男科学杂志,2006,12(9):839-841. 被引量：2
  • 3Nataf V, Senat MV, Albert M, et al. Prenatal diagnosis of a 45, X male with a SRY-bearing chromosome 21 [J]. Prenat Diagn, 2002,22 (8) :675-680.
  • 4Amemann J, Schnittger S, Hinkel GK, et al. A sterile male with 45, X0 and a Y ;22 transloeation [ J ]. Hum Genet, 1991,87 ( 2 ) : 134-138.
  • 5Callen DF, Sutherland GR, Carter RF. A fertile man with tdic (Y; 22): how a stable neo-X1X2Y sex-determining mechanism could evolve in man [ J ]. Am J Med Genet, 1987,3 (Suppl) : 151-155.
  • 6Tiepolo L, Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm[J]. Hum Genet, 1976,34(2) :119-124.
  • 7Bhasin S, de Kretser DM, Baker HW. Clinical review 64: Pathophysiology and natural history of male infertility [ J ]. J Clin Endocrinol Metab, 1994,79(6) :1525-1529.
  • 8Stahl A, Hartung M, Devictor M, et al. The association of the nucleolus and the short arm of acrocentric chromosomes with the XY pair in human spermatocytes: its possible role in facilitating sex-chromosome acrocentric translocations [ J ]. Hum Genet, 1984,68(2) :173-180.
  • 9Dahlen A, Debiec-Rychter M, Pedeutour F, et al. Clustering of deletions on chromosome 13 in benign and low-malignant lipomatous tumors[J]. Int J Cancer, 2003, 103(5) :6164523.
  • 10Kelly PC, Blake WW, Davis JR. Tandem Y/6 translocation with partial deletion 6(p23---- pter). [ J ]. Clin Genet, 1989, 36 ( 3 ) :204-207.

共引文献8

同被引文献32

  • 1方菊雄,陈嘉祥.Chromosomal Abnormalities and Gene Discovery in Schizophrenia[J].台湾精神医学,2007,21(4):242-252.
  • 2Baris HN,Tan WH,Kimonis VE,et al.Diagnostic utility of array-based comparative genomic hybridization in a clinical setting[J].Am J Med Gnet A,2007,143A (21):2523-2533.
  • 3Fan YS,Jayakar P,Zhu H,et al.Detction of pathionogenic gene copy number variations in patients with mental retardation by genomwide oligonucleotide array comparative genomic hybridization[J].Hum Mutat,2007,28(11):1124-1132.
  • 4Jaillard S,Drunat S,Bendavid C,et al.Identification of genecopy number variations in patints with mental retardation using array-CGH:Novel syndroms in a large French series[J].EurJ Med Gennt,2010,53(2):66-75.
  • 5Pickering DL,Eudy JD,Clney AH,et al.Arraybased comparative genomic hybridization analysis of 1176 consecutive clinical genetics inestigations[J].Genet Med,2008,10(4):262-266.
  • 6Shen Y,Irons M,Miller DT,et al.Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance[J].Clin Chem,2007,53(12):2051-2059.
  • 7Miyake N,Shimokawa O,Harada N,et al.BAC array CGH reveals genomic aberrations in idiopathic mental retardation[J].Am J Med Genet A,2006,140(3):205-211.
  • 8Stumm M,Klopocki E,Gasiorek-Wiens A,et al.Molecular cytogenetic characterisation of an interstiial deletion 12p detected by prenatal diagnosis[J].Prenat Diagn,2007,27(5):475-478.
  • 9Lisi EC,Hamosh A,Doheny KF,et al.3q29 interstitial microduplication:a new syndrome in a three-generation family[J].Am J Med Genet A,2008,146A(5):601-609.
  • 10Delahaye A,Bitoun P,Drunat S,et al.Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies[J].Eur J Hum Genet,2012,20(5):527-533.

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医学研究生学报
2010年 第7期

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