一例idic(15)来源的嵌合型标记染色体的遗传学分析  

Genetic analysis of a case with mosacism of a small supernumerary marker chromosome derived from idic(15)

作　　者：邵敏杰[1] 王云[1] 赵楠[1] 刘平[1] Shao Minjie;Wang Yun;Zhao Nan;Liu Ping(Center for Reproductive Medicine,Department of Obstetrics and Gynecology,Peking University Third Hospital,National Clinical Research Center for Obstetrics and Gynecology Key Laboratory of Assisted Reproduction(Peking University),Ministry of Education Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology,Beijing 100191,China)

机构地区：[1]北京大学第三医院妇产科生殖医学中心,国家妇产疾病临床医学研究中心,辅助生殖教育部重点实验室(北京大学),北京市生殖内分泌与辅助生殖技术重点实验室,北京100191

出　　处：《中华医学遗传学杂志》2022年第1期85-88,共4页Chinese Journal of Medical Genetics

摘　　要：目的应用细胞遗传学和分子生物学检测方法明确1例嵌合型标记染色体患者的核型及其来源。方法抽取患者的外周血样,进行染色体核型分析、基因芯片检测和荧光原位杂交检测。结果染色体分析结果显示患者核型为mos 47,XX,+mar[45]/48,XX,+2mar[3]/46,XX[52];基因芯片检测结果为arr[hg19]15q11.1q11.2(20161372-24314675)×3,重复片段约4.15 Mb;荧光原位杂交显示约50%的细胞含有的标记染色体为一条包含有双份D15Z1探针位点片段的衍生双着丝粒15号标记染色体。此标记染色体未包含Prader-Willi syndrome/Angelman syndrome综合征的SNRPN和PML探针位点片段。结论当患者的核型与其表型不一致时,将细胞遗传学与分子生物学技术相结合,可以明确患者的核型和基因定位,为其后续治疗提供更精准的遗传咨询。Objective To determine the origin of a mosaic small supernumerary marker chromosome(sSMC)by cytogenetic and molecular analysis.Methods Karyotype analysis,fluorescence in situ hybridization(FISH)and SNP-array were carried out.Results The karyotype of the patient was mos47,XX,+mar[45]/48,XX,+2mar[3]/46,XX[52],the SNP-array result was arr[hg19]15q11.1q11.2(20161372-24314675)×3,and the repeat fragment was about 4.15 Mb.FISH showed that approximately 50%of the cells have contained a sSMC with double D15Z1 probe site segments derived from abnormal idic(15).This sSMC did not contain SNRPN and PML probe fragments of Prader-Willi syndrome/Angelman syndrome.Conclusion When the patient’s karyotype and phenotype are inconsistent,cytogenetic and molecular biology technologies should be combined to clarify the karyotype and gene location,so as to provide more accurate genetic consultation for the follow-up treatments.

关 键 词：细胞遗传 基因芯片 荧光原位杂交 标记染色体 

分 类 号：R596[医药卫生—内科学]