一例13q部分三体合并5p部分单体缺陷儿的细胞及分子遗传学鉴定  

Cytogenetic and molecular genetic diagnosis of a neonate with partial 13q trisomy and partial 5p monosomy

作　　者：肖文珺[1] 高振奎[1] 孟倩[1] 张曼[1] 

机构地区：[1]首都医科大学附属北京世纪坛医院检验科,北京100038

出　　处：《中华医学遗传学杂志》2014年第6期747-749,共3页Chinese Journal of Medical Genetics

基　　金：科技部支撑项目（2013BAll2801）

摘　　要：目的对一例表现为多发畸形，哭声似猫叫，伴显著低血糖的缺陷儿进行病因学鉴定，并分析异常核型和表型的关系。方法结合核型分析和荧光定量PCR技术，确诊患儿的核型，并通过文献回顾分析核型和特殊表型间的关系。结果该患儿为13q部分三体（q12→qter）合并5p部分单体（p15→pter）。结论应用荧光定量PCR等技术明确了一例罕见的染色体异常，可为核型和表型间的关系的研究提供参考。Objective To diagnose a neonate presenting with multiple dysmorphic features, Cri du chat signs and hypoglycemia and to correlate the phenotype with the genotype. Methods The patient was diagnosed with conventional cytogenetics and real-time fluorescence quantitative PCR （QF-PCR）. The phenotype was then correlated with the genotype through a review of literature. Results the neonate was diagnosed with a partial 13q trisomy （ql2→qter） and partial 5p monosomy （plS→pter）. Conclusion A rare diagnosis has been established with combined cytogenetic and molecular genetic techniques. QF PCR has a broad application in genetic diagnosis.

关 键 词：出生缺陷 13q部分三体 5p部分单体 荧光定量PCR 核型分析 

分 类 号：R394[医药卫生—医学遗传学]