论文部分内容阅读
目的产前诊断一例胎儿羊水细胞染色体G显带320条带下结果为46,XN,der(18)?p+,利用单核苷酸多态性微阵列(single nucleotide polymorphism array,SNParray)进一步分析及探讨其发生原因。方法胎儿及父母行染色体G显带核型分析,胎儿羊水行SNP array分析并用荧光原位杂交检测验证核型分析的结果。结果胎儿羊水染色体320条带下结果为46,XN,der(18)?p+,其母亲染色体为正常女性核型,父亲为46,XN,der(18)?p+。单核苷酸多态性微阵列(single nucleotide polymorphism array,SNParray)结果为:arr[hg19]18p11.32p11.31(136,227-4,866,546)x1,18q21.32q23(57,367,742-78,013,728)x3;使用Affymetrix Cyto Scan 750K Array基因芯片分析显示胎儿18号染色体18p11.32p11.31区段存在4.7Mb片段的缺失,同时,胎儿18号染色体18q21.32q23区段存在20.6Mb片段的重复。胎儿目标染色体末端探针FISH的验证结果为46,xx,ish rec(18)dup(18q)inv(18)(p11.2q21.3?)(18pter-,18qter++)。结论 SNP array技术可以鉴别常规G显带无法判断的胎儿18号染色体短臂部分单体,长臂部分三体的重组衍生染色体,并精确定位断裂点,在胎儿期诊断出可疑治病基因并分析表型与基因型的关系。
OBJECTIVE. Prenatal diagnosis of a case of fetal amniotic fluid cell chromosome G band 320 with the next result of 46, XN, der (18)? P +, using single nucleotide polymorphism array (single nucleotide polymorphism array, SNParray) for further analysis and Explore its causes. Methods Fetal and parental chromosome G-banding karyotype analysis, fetal amniotic fluid SNP array analysis and fluorescence in situ hybridization test karyotype analysis results. Results Fetal amniotic fluid chromosome 320 was 46, XN, der (18)? P +. The mothers’ chromosomes were normal female karyotypes. The father was 46, XN, der (18)? P +. Single nucleotide polymorphism array (SNParray) results were: arr [hg19] 18p11.32p11.31 (136,227-4,866,546) xl, 18q21.32q23 (57,367,742-78,013,728) x3; Affymetrix Cyto Scan The 750K Array microarray analysis showed the deletion of 4.7Mb fragment in 18p11.32p11.31 region of chromosome 18 and the duplication of 20.6Mb fragment in 18q21.32q23 region on chromosome 18 of fetus. Fetal target chromosome end-point FISH was verified as 46, xx, ish rec (18) dup (18q) inv (18) (p11.2q21.3?) (18 pter-, 18qter ++). Conclusion The SNP array technique can identify recombinant derived chromosomes of short arm and long arm of fetus chromosome 18, which can not be determined by conventional G - banding, and can accurately locate the break point and diagnose the suspicious disease genes during fetal period Relationship between phenotype and genotype.