国际遗传学杂志
國際遺傳學雜誌
국제유전학잡지
INTERNATIONAL JOURNAL OF GENETICS
2009年
2期
81-83,88
,共4页
染色体复杂重排%智力低下%自然流产%遗传学检测%遗传咨询
染色體複雜重排%智力低下%自然流產%遺傳學檢測%遺傳咨詢
염색체복잡중배%지력저하%자연유산%유전학검측%유전자순
Complex chromosomal rearrangements%Mental retardation%Spontaneous abortion%Genetic testing%Genetic counseling
目的 以4例染色体复杂重排新核型的确诊为例,探讨这类染色体异常的检测方法及遗传咨询.方法 应用常规G显带技术分析4例复杂易位患者的染色体核型,其中2例为智力低下患者,另2例来自有自然流产史的夫妇.2例智力低下患者应用FISH和CGH技术进一步分析并检测其父母核型.查询相关数据库检索4例核型的发生率.结果 4例患者的核型分别为46,XYqh+,t(1;12;2;10)(q25;q11;p14;p11),inv(1)(p22q25),46,XY,t(7;21;8)(p13;q22;p21),46,XX,t(3;7;10)(q28;p15;q22)和46,XY,t(2;16;5)(q33;p12;q33).2例智力低下患者经FISH和CGH检测未发现其他染色体的异常,未见染色体微小重复或缺失.4例核型均为国内外文献未曾报道的新核型.结论 染色体复杂重排的遗传学检测需要综合考虑多种核型分析方法的结果,染色体复杂重排的遗传咨询需要着重结合其重排类型和临床症状进行分析.
目的 以4例染色體複雜重排新覈型的確診為例,探討這類染色體異常的檢測方法及遺傳咨詢.方法 應用常規G顯帶技術分析4例複雜易位患者的染色體覈型,其中2例為智力低下患者,另2例來自有自然流產史的伕婦.2例智力低下患者應用FISH和CGH技術進一步分析併檢測其父母覈型.查詢相關數據庫檢索4例覈型的髮生率.結果 4例患者的覈型分彆為46,XYqh+,t(1;12;2;10)(q25;q11;p14;p11),inv(1)(p22q25),46,XY,t(7;21;8)(p13;q22;p21),46,XX,t(3;7;10)(q28;p15;q22)和46,XY,t(2;16;5)(q33;p12;q33).2例智力低下患者經FISH和CGH檢測未髮現其他染色體的異常,未見染色體微小重複或缺失.4例覈型均為國內外文獻未曾報道的新覈型.結論 染色體複雜重排的遺傳學檢測需要綜閤攷慮多種覈型分析方法的結果,染色體複雜重排的遺傳咨詢需要著重結閤其重排類型和臨床癥狀進行分析.
목적 이4례염색체복잡중배신핵형적학진위례,탐토저류염색체이상적검측방법급유전자순.방법 응용상규G현대기술분석4례복잡역위환자적염색체핵형,기중2례위지력저하환자,령2례래자유자연유산사적부부.2례지력저하환자응용FISH화CGH기술진일보분석병검측기부모핵형.사순상관수거고검색4례핵형적발생솔.결과 4례환자적핵형분별위46,XYqh+,t(1;12;2;10)(q25;q11;p14;p11),inv(1)(p22q25),46,XY,t(7;21;8)(p13;q22;p21),46,XX,t(3;7;10)(q28;p15;q22)화46,XY,t(2;16;5)(q33;p12;q33).2례지력저하환자경FISH화CGH검측미발현기타염색체적이상,미견염색체미소중복혹결실.4례핵형균위국내외문헌미증보도적신핵형.결론 염색체복잡중배적유전학검측수요종합고필다충핵형분석방법적결과,염색체복잡중배적유전자순수요착중결합기중배류형화림상증상진행분석.
Objective To explore the testing methods and genetic counseling issues based on 4 cases of new kayoytpes of complex chromosomal rearrangements(CCRs).Methods 4 patients with CCRs were analyzed by ordinary G banding,among them 2 patients were mental retardation,and another two had spontaneous abortion.FISH and comparative genomic hybridization(CGH) were further used to study the two patients with mental retardation.The testing methods and genetic counseling issues were reviewed by literatures.Results The karyotypes of the 4 patients were 46,XYqh+,t(1;12;2;10)(q25;q11;p14;p11),inv(1)(p22q25),46,XY,t(7;21;8)(p13;q22;p21),46,XX,t(3;7;10)(q28;p15;q22) and 46,XY,t(2;16;5)(q33;p12;q33),respectively.The abnormal karyotypes of the two mental retardation patients were de novo,and no minute translocation and other structural rearrangement were found by multicolor FISH and CGH.The four karyotypes Were not reported by any international journal.Conclusion Traditional karyotyping analysis is the base for testing complex chromosomal rearrangements.The genetic effects of complex chromosomal rearrangements are involved in fertility difficulties and mental retardation,and are also related with the rearrangement types.
