[普拉德-威利综合征患者的不平衡易位t(5;15)]
[Unbalanced translocation t (5;15) in a patient with Prader-Willi syndrome].
作者信息
Bai Jin-li, Wang Hong, Yang Yan-ling, Song Fang
机构信息
Department of Genetics, Capital Institute of Pediatrics, Beijing, P.R. China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Dec;27(6):664-7. doi: 10.3760/cma.j.issn.1003-9406.2010.06.013.
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.
目的
对一名疑似普拉德-威利综合征患者进行诊断并检测其分子缺陷。
方法
采用染色体核型分析、甲基化特异性PCR（MS-PCR）以及短串联重复序列（STR）连锁分析进行基因诊断和分子遗传学分析。
结果
患者的核型为45, XX, der(5), t(5;15)(q35;q13), -15，其父母核型分别为46, XY和46, XX，这表明患者的不平衡易位t(5;15)是新生的。此外，MS-PCR和STR连锁分析证实患者的15q11-13缺失是由父源15号染色体的不平衡易位导致的。
结论
对于疑似普拉德-威利综合征的患者应进行基因分析以确诊。细胞遗传学和分子技术有助于临床诊断、遗传咨询和产前诊断。
Zotero 插件