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目的探讨荧光原位杂交(FISH)技术在诊断培养后的羊水细胞染色体亚显微结构异常中的应用价值。方法对1例18孕周,经典细胞遗传学羊水染色体核型分析结果与B超检查结果有不符合的胎儿,应用FISH的18号、X、Y染色体着丝粒探针和13、21号染色体位点特异性探针,对培养后的羊水中期细胞标本进行检测。结果共分析了22个独立细胞克隆的分裂象,发现胎儿染色体存在两种核型嵌合,结果记为:mos45,X[20]/46,XY[2];FISH检测发现此胎儿核型存在Y染色体亚显微小片段易位。结论 FISH技术结合传统细胞遗传学核型分析,对于诊断染色体亚显微结构异常非常重要。
Objective To investigate the value of fluorescence in situ hybridization (FISH) in the diagnosis of chromosomal submicroscopic abnormalities of amniotic fluid cells after culture. Methods 18 cases of gestational age in 18 cases, classic cytogenetic amniotic fluid chromosome karyotype analysis results and B ultrasound examination results do not meet the fetus, using FISH 18, X, Y chromosome centromere probe and chromosome 13,21 Site-specific probes for the detection of intervened amniotic fluid metaphase cells. Results A total of 22 independent cell clones were analyzed for schizonts. Two karyotypic chimeras were found in fetal chromosomes. The results were recorded as: mos45, X [20] / 46, XY [2] Translocation of the Y chromosome submicrosome fragment. Conclusion FISH technology combined with traditional cytogenetic karyotyping is very important for the diagnosis of chromosomal abnormalities in microstructure.