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
447-450
,共4页
徐雪琴%王平%唐少华%李焕铮%郑昭科%谢番妮%吕建新
徐雪琴%王平%唐少華%李煥錚%鄭昭科%謝番妮%呂建新
서설금%왕평%당소화%리환쟁%정소과%사번니%려건신
标记染色体%SNP芯片%产前诊断%核型分析
標記染色體%SNP芯片%產前診斷%覈型分析
표기염색체%SNP심편%산전진단%핵형분석
Marker chromosome%SNP chip%Prenatal diagnosis%Karyotype analysis
目的 用SNP芯片技术对1例产前发现的疑难额外小标记染色体(small supernumerary marker chromosome,sSMC)进行鉴定,明确其遗传物质的来源并推测其发生机制.方法 对1例染色体核型分析提示携带来源不明sSMC的胎儿进行SNP芯片全基因组扫描检测,结果用荧光原位杂交技术(fluorescence in situ hybridization,FISH)验证.结果 胎儿染色体核型示46,X,+mar,芯片结果确定sSMC为Yp11.2-11.3重复、Yq11.2区域缺失,FISH结果证明sSMC来源于Y染色体.结论 明确胎儿核型为46,X,idic(Y)(pter→ p11.2∶∶11.2→pter).Yq11.2区的缺失与男性无精症相关.芯片技术可一次性排除23对染色体大于1 Mb的微缺失和重复,明确遗传学机制,适用于疑难病例的鉴别和微缺失重复综合征的产前诊断.
目的 用SNP芯片技術對1例產前髮現的疑難額外小標記染色體(small supernumerary marker chromosome,sSMC)進行鑒定,明確其遺傳物質的來源併推測其髮生機製.方法 對1例染色體覈型分析提示攜帶來源不明sSMC的胎兒進行SNP芯片全基因組掃描檢測,結果用熒光原位雜交技術(fluorescence in situ hybridization,FISH)驗證.結果 胎兒染色體覈型示46,X,+mar,芯片結果確定sSMC為Yp11.2-11.3重複、Yq11.2區域缺失,FISH結果證明sSMC來源于Y染色體.結論 明確胎兒覈型為46,X,idic(Y)(pter→ p11.2∶∶11.2→pter).Yq11.2區的缺失與男性無精癥相關.芯片技術可一次性排除23對染色體大于1 Mb的微缺失和重複,明確遺傳學機製,適用于疑難病例的鑒彆和微缺失重複綜閤徵的產前診斷.
목적 용SNP심편기술대1례산전발현적의난액외소표기염색체(small supernumerary marker chromosome,sSMC)진행감정,명학기유전물질적래원병추측기발생궤제.방법 대1례염색체핵형분석제시휴대래원불명sSMC적태인진행SNP심편전기인조소묘검측,결과용형광원위잡교기술(fluorescence in situ hybridization,FISH)험증.결과 태인염색체핵형시46,X,+mar,심편결과학정sSMC위Yp11.2-11.3중복、Yq11.2구역결실,FISH결과증명sSMC래원우Y염색체.결론 명학태인핵형위46,X,idic(Y)(pter→ p11.2∶∶11.2→pter).Yq11.2구적결실여남성무정증상관.심편기술가일차성배제23대염색체대우1 Mb적미결실화중복,명학유전학궤제,괄용우의난병례적감별화미결실중복종합정적산전진단.
Objective To determine the origin of 1 prenatally detected small supernumerary marker chromosome (sSMC) using SNP-chip technology,and to deduce the underlying mechanism.Methods The fetal sample was subjected to karyotype analysis.The identified sSMC was subjected to genome-wide scan using a SNP microarray chip.The results were validated with fluorescence in situ hybridization (FISH).Results The karyotype of the fetus was determined as 46,X,+mar,which was verified by SNP microarray chip analysis as Yp11.2-11.3 duplication,along with loss of Yq11.2 region,FISH analysis has confirmed that the sSMC has derived from the Y chromosome.Conclusion The karyotype of the fetus was determined as 46,X,idic(Y) (pter→p11.2∶∶ 11.2→pter).Regional deletion of Yq11.2 has been associated with male azoospermia.SNP chip analysis can exclude minor deletions and duplications with a size of ＞1 Mb,which may be applied for verifying difficult cases as well as microdeletion and duplication syndromes upon prenatal diagnosis.
