中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2013年
4期
443-446
,共4页
罗福薇%罗彩群%谢建生%耿茜%刘红%李芳%陈武斌%王丽
囉福薇%囉綵群%謝建生%耿茜%劉紅%李芳%陳武斌%王麗
라복미%라채군%사건생%경천%류홍%리방%진무빈%왕려
猫叫综合征%微阵列比较基因组杂交%拷贝数变异
貓叫綜閤徵%微陣列比較基因組雜交%拷貝數變異
묘규종합정%미진렬비교기인조잡교%고패수변이
Cri du Chat syndrome%Microarray comparative genomic hybridization%Copy number variation
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14.602 Mb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)×1 pat,12p13.33p13.1(IQSEC3→GUC Y2C)× 3 pat.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.
目的 對1例貓叫綜閤徵患兒進行基因組拷貝數分析,尋找其緻病原因.方法 對患兒外週血進行常規G顯帶分析,應用微陣列比較基因組雜交技術進行全基因組掃描,併應用熒光原位雜交技術對異常拷貝數區域進行驗證.結果 患兒染色體覈型為46,XY,der(5)(p?).微陣列比較基因組雜交顯示其在5p14.2-p15.3處存在23.263Mb的片段缺失,12號染色體12p31區域存在14.602 Mb的片段重複.重複片段連接至5p14.2處,形成5號衍生染色體,即arr cgh 5p15.3p14.2(PLEKHG4B→CDH12)×1 pat,12p13.33p13.1(IQSEC3→GUC Y2C)× 3 pat.熒光原位雜交證實患兒存在5p末耑缺失及12p末耑重複.結論 5號染色體不平衡易位導緻患兒5p末耑缺失可能是患兒的病因.微陣列比較基因組雜交技術具有高分辨、高通量和高準確性的優點,適用于全基因組拷貝變異分析.
목적 대1례묘규종합정환인진행기인조고패수분석,심조기치병원인.방법 대환인외주혈진행상규G현대분석,응용미진렬비교기인조잡교기술진행전기인조소묘,병응용형광원위잡교기술대이상고패수구역진행험증.결과 환인염색체핵형위46,XY,der(5)(p?).미진렬비교기인조잡교현시기재5p14.2-p15.3처존재23.263Mb적편단결실,12호염색체12p31구역존재14.602 Mb적편단중복.중복편단련접지5p14.2처,형성5호연생염색체,즉arr cgh 5p15.3p14.2(PLEKHG4B→CDH12)×1 pat,12p13.33p13.1(IQSEC3→GUC Y2C)× 3 pat.형광원위잡교증실환인존재5p말단결실급12p말단중복.결론 5호염색체불평형역위도치환인5p말단결실가능시환인적병인.미진렬비교기인조잡교기술구유고분변、고통량화고준학성적우점,괄용우전기인조고패변이분석.
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 Mb 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 arr cgh 5p15.3p14.2 (PLEKHG4B→CDH12) × 1 pat,12p13.33p13.1 (IQSEC3→GUC Y2C) × 3 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.
