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...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1Mb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。展开更多
Chromosomes in 1620 metaphases of ascitic fluid cells in 20 cases of ovariancarcinoma were analyzed.The results showed that there were marked structuralaberrations aside from significant increase in chromosomal numeri...Chromosomes in 1620 metaphases of ascitic fluid cells in 20 cases of ovariancarcinoma were analyzed.The results showed that there were marked structuralaberrations aside from significant increase in chromosomal numerical aberrations(85.2%).In the ascitic fluid cells from 12 patients,15 types of marker chromosomes were found,among which t(6;14)(q21;q24)and t(2;6)(q35;p12)were more frequently noted witha rate of 7.84% and 7.59% respectively,which was significantly higher than that of othermarker chromosomes(P【0.01).The findings suggested that,besides t(6;14)(q21;q24),t(2;6)(q35;p12)may also be a specific marker chromosome of ovarian carcinoma.展开更多
Placenta is the place of material exchange between mother and fetus in mammals.But the maternal-fetal barrier is so effective that each keeps its own independence. Overthe past few years, there have been several repor...Placenta is the place of material exchange between mother and fetus in mammals.But the maternal-fetal barrier is so effective that each keeps its own independence. Overthe past few years, there have been several reports proving that human fetal lymphocytescan migrate transplacentally and enter maternal circulation, and similar展开更多
文摘目的用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1Mb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。
文摘Chromosomes in 1620 metaphases of ascitic fluid cells in 20 cases of ovariancarcinoma were analyzed.The results showed that there were marked structuralaberrations aside from significant increase in chromosomal numerical aberrations(85.2%).In the ascitic fluid cells from 12 patients,15 types of marker chromosomes were found,among which t(6;14)(q21;q24)and t(2;6)(q35;p12)were more frequently noted witha rate of 7.84% and 7.59% respectively,which was significantly higher than that of othermarker chromosomes(P【0.01).The findings suggested that,besides t(6;14)(q21;q24),t(2;6)(q35;p12)may also be a specific marker chromosome of ovarian carcinoma.
基金Project supported by the National Natural Science Foundation of China.
文摘Placenta is the place of material exchange between mother and fetus in mammals.But the maternal-fetal barrier is so effective that each keeps its own independence. Overthe past few years, there have been several reports proving that human fetal lymphocytescan migrate transplacentally and enter maternal circulation, and similar
