微阵列比较基因组杂交技术分析一例猫叫综合征患儿的基因组拷贝数变异  

Analysis of copy number variations in an infant with Cri du Chat syndrome by array-based comparative genomichybridization

作　　者：罗福薇[1] 罗彩群[1] 谢建生[1] 耿茜[1] 刘红[1] 李芳[1] 陈武斌[1] 王丽[1] 

机构地区：[1]广东省深圳市妇幼保健院产前诊断中心,518048

出　　处：《中华医学遗传学杂志》2013年第4期443-446,共4页Chinese Journal of Medical Genetics

摘　　要：目的对1例猫叫综合征患儿进行基因组拷贝数分析，寻找其致病原因。方法对患儿外周血进行常规G显带分析，应用微阵列比较基因组杂交技术进行全基因组扫描，并应用荧光原位杂交技术对异常拷贝数区域进行验证。结果患儿染色体核型为46，XY，der（5）（p？）。微阵列比较基因组杂交显示其在5p14．2-p15．3处存在23．263Mb的片段缺失，12号染色体12p31区域存在14．602Mb的片段重复。重复片段连接至5p14．2处，形成5号衍生染色体，即arr cgh 5p15．3p14．2（PLEKHG4B→CDH12）×1pat，12p13．33p13．1（IQSEC3→GUCY2C）×3pat。荧光原位杂交证实患儿存在5p末端缺失及12p末端重复。结论5号染色体不平衡易位导致患儿5p末端缺失可能是患儿的病因。微阵列比较基因组杂交技术具有高分辨、高通量和高准确性的优点，适用于全基因组拷贝变异分析。Objective To analyze genomic copy number variations in an infant with Cri du Chat syndrome, and to explore the underlying genetic cause. Methods G-banding analysis was carried out on cultured peripheral blood sample from the patient. Copy number variation analysis was performed using microarray comparative genomic hybridization, and the result was verified with fluorescence in situ hybridization. Results The infant was found to have a 46, XY, der（5）（p？） karyotype. By microarray comparative genomic hybridization, a 23. 263 Mh deletion was detected in 5p14.2-p15.3 region in addition to a 14. 602 Mb duplication in 12p31 region. A derivative chromosome was formed by rejoining of 12p31 region with the 5p14.2 breakpoint. The patient therefore has a karyotype of art cgh 5p15.3p14.2 （PLEKHG4B→CDH12）X1 pat, 12p13.33p13.1 （IQSEC3→GUC Y2C）X3 pat. Loss of distal 5p and gain of distal 12p were verified with fluorescence in situ hybridization. Conclusion The Cri du Chat syndrome manifested by the patient was caused by deletion of distal 5p from an unbalanced translocation involving chromosome 5. Microarray comparative genomic hybridization is a powerful tool for revealing genomic copy number variations for its high-resolution, high-throughput and high-accuracy.

关 键 词：猫叫综合征 微阵列比较基因组杂交 拷贝数变异 

分 类 号：R725.9[医药卫生—儿科]