论文部分内容阅读
报道2例用荧光原位杂交(FISH)产前检测微小的染色体重组。病例1:29岁,孕3产0。丈夫核型正常,孕妇为1号和2号染色体嵌入易位,一小片断自2q插入1p。其核型是46XX ins(1;2)(p36;q22 q24)。本次妊娠第10周做绒毛取样(CVS)检查。在2号染色体α-随体和2号染色体长臂2q 22～24区用FISH技术以两个荧光标记探针查出1号染色体短臂末端部分有2q 22～24的杂交信号,证实为平衡嵌入,ins(1;2)(p36;q22q24)。妊娠期平顺,39孕周时分娩一个表型正常、体重3 488 g的男婴。病例2,31岁孕1产1。5年前孕37周生产一男婴,体重2 510 g,伴多发先天性畸形:左侧并指(趾),
Two cases were reported prenatal detection of microscopic chromosomal recombination by fluorescence in situ hybridization (FISH). Case 1:29 years old, 3 pregnant and 0. Husband’s karyotype is normal, pregnant women chromosome 1 and 2 chromosome translocation, a small piece inserted 1p from 2q. Its karyotype is 46XX ins (1; 2) (p36; q22 q24). The 10th week of pregnancy to do villus sampling (CVS) examination. Two fluorescently labeled probes were used to detect the 2q22-24 hybridization signal at the short arm end of chromosome 1 on chromosome 2α-satellite and chromosome 2q 22 ~ 24 in FISH. Embedding, ins (1; 2) (p36; q22q24). Gestational smooth, 39 gestational weeks when a normal phenotype, weighing 3 488 g of baby boy. Case 2, 31 years pregnant 1 years 1.5 years ago 37 weeks of gestation to produce a baby boy weighing 2,510 g, with multiple congenital malformations: the left and the finger (toes)