一例BP3：BP3重排inv dup（15）的临床表型和遗传学分析  

Phenotypic and genetic analysis of an inv dup （15）case with a BP3 ： BP3 rearrangement

作　　者：钟福春[1] 兰风华[1] 张晓[1] 林宇翔[1] 林炎鸿[1] 严爱贞[1] 涂向东[1] 

机构地区：[1]南京军区福州总医院临床遗传与实验医学科,福州350025

出　　处：《中华医学遗传学杂志》2017年第3期402-405,共4页Chinese Journal of Medical Genetics

摘　　要：目的联合多种遗传学技术鉴定1例标记染色体，并分析其基因组重排与临床表型的关系。方法应用G显带核型分析、多重连接依赖性探针扩增技术、荧光原位杂交和单核苷酸多态性芯片对标记染色体进行分析。结果G显带核型分析为47，XX，＋mar。多重连接依赖性探针扩增技术分析提示15q近端重复。荧光原位杂交检测标记染色体来源于15号染色体，含双着丝粒。单核苷酸多态性芯片显示15q11-13增加了两个拷贝数，重复区域位于20161372-29071810。结论Prader—Willi／Angelman综合征关键区拷贝数增加可能是导致BP3：BP3重排inv dup（15）异常表型的主要原因。Objective To analyze a case of supernumerary marker chromosome （SMC） with combined genetic techniques and explore its correlation with the clinical phenotype. Methods The SMC was analyzed with G-banded karyotyping, multiplex ligation dependent probe amplification （MLPA）, fluorescence in situ hybridization （FISH）, and single nucleotide polymorphism array （SNP-array）. Results G-banding analysis indicated that the patient has a karyotype of 47, XX,＋mar. MLPA showed that there were duplications of proximal 15q. FISH assay using D15Z4 probes indicated that the SMC was a pseudodicentric chromosome derived from chromosome 15. And SNP-array revealed that there were two extra copies of 15q11-13 region spanning from locus 20 161 372 to 29 071 810. Conclusion The duplication of Prader-Willi/Angelman syndrome critical region probably underlies the abnormal phenotype of the inv dup （15） case with a BP3 ： BP3 rearrangement.

关 键 词：标记染色体 基因组重排 临床表型 单核苷酸多态性芯片 

分 类 号：R440[医药卫生—诊断学] R711.6[医药卫生—临床医学]