中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2014年
2期
210-213
,共4页
张建林%李海波%姜胜华%陈瑛%张玉泉
張建林%李海波%薑勝華%陳瑛%張玉泉
장건림%리해파%강성화%진영%장옥천
XYY综合征%核型分析%荧光原位杂交%多重连接依赖探针扩增%微阵列比较基因组杂交
XYY綜閤徵%覈型分析%熒光原位雜交%多重連接依賴探針擴增%微陣列比較基因組雜交
XYY종합정%핵형분석%형광원위잡교%다중련접의뢰탐침확증%미진렬비교기인조잡교
XYY syndrome%Karyotyping%Fluorescence in situ hybridization%Multiplex ligation dependent probe amplification%Array-comparative genomic hybridization
目的 对1例语言发育迟缓患儿及其家系成员进行细胞和分子遗传学分析,寻找其致病原因.方法 常规外周血G显带分析后,应用荧光原位杂交(fluorescence in situ hybridization,FISH)技术、多重连接依赖探针扩增(multiplex ligation dependent probe amplification,MLPA)技术和微阵列比较基因组杂交(array-comparative genomic hybridization,aCGH)技术明确鉴定异常染色体.结果 患儿G显带染色体核型为47,XY,+?,不明来源的染色体经FISH结果证实为Y染色体,MLPA结果显示Y染色体探针增加,aCGH也显示Y染色体的拷贝数增加.未发现家系成员有其它染色体异常.结论 患儿的额外染色体为Y染色体.FISH、MLPA和aCGH等技术与细胞遗传学联合应用有助于准确鉴别不明来源的染色体,为临床诊疗提供准确的遗传学依据.
目的 對1例語言髮育遲緩患兒及其傢繫成員進行細胞和分子遺傳學分析,尋找其緻病原因.方法 常規外週血G顯帶分析後,應用熒光原位雜交(fluorescence in situ hybridization,FISH)技術、多重連接依賴探針擴增(multiplex ligation dependent probe amplification,MLPA)技術和微陣列比較基因組雜交(array-comparative genomic hybridization,aCGH)技術明確鑒定異常染色體.結果 患兒G顯帶染色體覈型為47,XY,+?,不明來源的染色體經FISH結果證實為Y染色體,MLPA結果顯示Y染色體探針增加,aCGH也顯示Y染色體的拷貝數增加.未髮現傢繫成員有其它染色體異常.結論 患兒的額外染色體為Y染色體.FISH、MLPA和aCGH等技術與細胞遺傳學聯閤應用有助于準確鑒彆不明來源的染色體,為臨床診療提供準確的遺傳學依據.
목적 대1례어언발육지완환인급기가계성원진행세포화분자유전학분석,심조기치병원인.방법 상규외주혈G현대분석후,응용형광원위잡교(fluorescence in situ hybridization,FISH)기술、다중련접의뢰탐침확증(multiplex ligation dependent probe amplification,MLPA)기술화미진렬비교기인조잡교(array-comparative genomic hybridization,aCGH)기술명학감정이상염색체.결과 환인G현대염색체핵형위47,XY,+?,불명래원적염색체경FISH결과증실위Y염색체,MLPA결과현시Y염색체탐침증가,aCGH야현시Y염색체적고패수증가.미발현가계성원유기타염색체이상.결론 환인적액외염색체위Y염색체.FISH、MLPA화aCGH등기술여세포유전학연합응용유조우준학감별불명래원적염색체,위림상진료제공준학적유전학의거.
Objective To identify the genetic cause for a family featuring language retardation using combined cytogenetic and molecular genetic methods.Methods Following conventional G-banded karyotype analysis,the additional Y chromosome was identified by fluorescence in situ hybridization (FISH) and multiplex ligation dependent probe amplification (MLPA).Whole genome array-comparative genomic hybridization (aCGH) was also carried out to detect minor structural chromosomal abnormalities.Results The proband's karyotype was determined as 47,XY,+?,and the unknown aberrant chromosome was identified as Yqh+ with FISH,MLPA and aCGH.No other chromosomal abnormality was found in the pedigree.Conclusion Cytogenetic methods combined with FISH,MLPA,and aCGH can efficiently identify the origin of unknown chromosomes and provide accurate clues for clinical diagnosis and treatment.
