一例染色体微缺失和微重复患儿的细胞遗传学及分子生物学分析

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英文篇名：Cytogenetic and Molecular Characterization of a Patient with Chromosome Microdeletions and Microduplications 作者：邱惠国 ; 胡斌 ; 洪国粦 英文作者：QIU Hui-guo;HU Bin;HONG Guo-lin;Department of Laboratory Medicine, the First Affiliated Hospital of Xiamen University; 关键词：新一代测序(NGS) ; 微缺失 ; 微重复 英文关键词：next generation sequencing(NGS);;microdeletion;;microduplication 中文刊名：SXYN 英文刊名：Journal of Modern Laboratory Medicine 机构：厦门大学附属第一医院检验科; 出版日期：2019-05-15 出版单位：现代检验医学杂志 年：2019 期：v.34 基金：福建省自然科学基金资助项目(2016J01643);; 厦市重要重大疾病联合攻关项目(3502Z20179044) 语种：中文; 页：SXYN201903008 页数：3 CN：03 ISSN：61-1398/R 分类号：40-42

摘要

目的确定1例畸形儿的核型,探讨二代测序(NGS)技术在分子细胞遗传学中的应用。方法对1例畸形儿、其父母及祖父三代人行外周血染色体G显带核型分析、NGS检测。结果 G显带染色体分析显示患儿、其父母及祖父核型均未见异常;NGS结果显示患儿46,dup(X)(q27.2q28);dup(Y)(p11.2p11.31);del(Y)(q11.223q11.23);del(9)(p23p24.3),其父母及祖父结果均未见异常。结论通过NGS确定染色体微缺失及微重复是导致患儿多发畸形的主要原因。
        Objective To determine the karyotype using cytogenetics technique and next-generation sequencing(NGS) in a patient with multiple malformations.Methods G-banding chromosome analysis and NGS were used to ascertain the karyotypes of the patient,his parents and Grandpa.Results The karyotypes of the child,his parents and grandpa were all normal.NGS revealed that the patient had harbored microduplications of Xq27.2-28 and Yp11.2-11.31,microdeletions of 9p23-24.3 and Yq11.223-11.23.Conclusion NGS analysis had identified chromosome microdeletions and microduplications were the main causes of multiple malformations in patient.

引文

[1] SHAFFER L G,BEJJANI B A.A cytogeneticist’s perspective on genomic microarrays[J].Hum Reprod Update,2004,10(3):221-226.
    [2] HINO-FUKUYO N,KIKUCHI A,ARAI-ICHINOI N,et al.Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome[J].Hum Genet,2015,134(6):649-658.
    [3] RIO M,MALAN V,BOISSEL S,et al.Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition[J].Eur J Hum Genet,2010,18(3):285-290.
    [4] GIRIRAJAN S,BRKANAC Z,COE B P,et al.Relative burden of large CNVs on a range of neurodevelopmental phenotypes[J].PLoS Genet,2011,7(11):e1002334.
    [5] NAVARRO-COSTA P,GONCALVES J,PLANCHA C E.The AZFc region of the Y chromosome:at the crossroads between genetic diversity and male infertility[J].Hum Reprod Update,2010,16(5):525-542.
    [6] KURODA-KAWAGUCHI T,SKALETSKY H,BR-OWN L G,et al.The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men[J].Nat Genet,2001,29(3):279-286.
    [7] LEDIG S,HIORT O,SCHERER G,et al.Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis:evaluation of array CGH as diagnostic tool and search for new candidate loci[J].Hum Reprod,2010,25(10):2637-2646.
    [8] HAUGE X,RACA G,COOPER S,et al.Detailed cha-racterization of,and clinical correlations in,10 patients with distal deletions of chromosome 9p[J].Genet Med,2008,10(8):599-611.