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一例BP3:BP3重排inv dup(15)的临床表型和遗传学分析 被引量:5

Phenotypic and genetic analysis of an inv dup (15)case with a BP3 : BP3 rearrangement
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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.
出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2017年第3期402-405,共4页 Chinese Journal of Medical Genetics
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 Supernumerary marker chromosome Genomic rearrangement Clinical phenotype Single nucleotide polymorphism array
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