[一例具有BP3:BP3重排的inv dup(15)病例的表型和遗传学分析]
[Phenotypic and genetic analysis of an inv dup(15) case with a BP3:BP3 rearrangement].
作者信息
Zhong Fuchun, Lan Fenghua, Zhang Xiao, Lin Yuxiang, Lin Yanhong, Yan Aizhen, Tu Xiangdong
机构信息
Department of Clinical Genetics and Experimental Medicine, Fuzhou General Hospital of Nanjing Military Command, Fuzhou, Fujian 350025, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Jun 10;34(3):402-405. doi: 10.3760/cma.j.issn.1003-9406.2017.03.020.
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.
目的
运用联合基因技术分析1例标记染色体（SMC）病例，并探讨其与临床表型的相关性。
方法
采用G显带核型分析、多重连接依赖探针扩增技术（MLPA）、荧光原位杂交技术（FISH）及单核苷酸多态性芯片技术（SNP芯片）对SMC进行分析。
结果
G显带分析显示该患者核型为47,XX,+mar。MLPA结果表明15号染色体长臂近端存在重复。使用D15Z4探针进行的FISH检测显示，该SMC是一条源自15号染色体的假双着丝粒染色体。SNP芯片显示在15q11 - 13区域存在两个额外拷贝，跨越位点20 161 372至29 071 810。
结论
普拉德 - 威利/安吉尔曼综合征关键区域的重复可能是导致该例具有BP3:BP3重排的inv dup(15)病例出现异常表型的原因。
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