一例由染色体不平衡易位t（5;15）导致的Prader-Willi综合征  

Unbalanced translocation t （5;15） in a patient with Prader-Willi syndrome

作　　者：白晋丽[1] 王红[1] 杨艳玲[1] 宋昉[1] 

机构地区：[1]北京首都儿科研究所遗传研究室,100020

出　　处：《中华医学遗传学杂志》2010年第6期664-667,共4页Chinese Journal of Medical Genetics

摘　　要：目的 对1例临床疑似Prader-willi综合征（Prader-Wil syndrome,PWS）的患儿进行遗传学诊断和分型.方法 应用染色体核型分析结合甲基化特异性PCR（methylation-specific PCR,MS-PCR）及短串联重复序列（short tandem repeat,STR）家系连锁分析方法对患儿进行诊断和分子病理学分型.结果 患儿染色体核型为45,XX,der（5）t（5;15）（q35;q13）,-15,存在5号与15号染色体之间的不平衡易位;甲基化特异性PCR及STR家系连锁分析方法进一步证实患儿为父源15号染色体不平衡易位导致的15q缺失型Prader-Willi综合征.结论 临床疑似PWS的患儿应进行遗传学检查,以便获得确诊.细胞遗传学及分子遗传学方法的有效结合对于临床诊断、分辨不同病理类型、遗传咨询以及产前诊断都具有积极的作用.Objective To diagnose and detect the molecular defect in a suspected patient with Prader-Willi syndrome. Methods Genetic diagnosis and molecular genetic analysis were performed by using chromosome karyotype analysis, methylation-specific PCR （MS-PCR）, and linkage analysis using short tandem repeat （STR）. Results The karyotype of the patient was 45,XX, der （5）, t （5;15）（q35;q13）,-15, and the parents were 46,XY and 46, XX , respectively, implying that the unbalanced translocation t（5;15） in the patient was de novo. Furthermore, MS-PCR and STR linkage analysis confirmed that the patient＇s 15q11-13 deletion was resulted from unbalanced translocation on paternal chromosome 15.Conclusion Genetic analysis should be applied in suspected patients with Prader-Willi syndrome to confirm the diagnosis. Cytogenetic and molecular techniques would be helpful in clinical diagnosis, genetic counseling and prenatal diagnosis.

关 键 词：Prader—Willi综合征 15号染色体 甲基化特异性聚合酶链反应 不平衡易位 

分 类 号：R686[医药卫生—骨科学]