Bernstein R, Bocian M E, Cain M J, Bengtsson U, Wasmuth J J
Department of Pediatrics, University of California, Irvine.
Am J Med Genet. 1993 Apr 1;46(1):77-82. doi: 10.1002/ajmg.1320460113.
Fluorescent in situ hybridization (FISH) identified a cryptic balanced reciprocal translocation in the mother of an infant with the cri-duchat syndrome. A biotinylated probe from a flow-sorted chromosome 5 cosmid library was used to show the distal deletion of 5p15.2 in the propositus and a translocation of this segment to the distal end of 7 at 7p21 in his mother. In a subsequent pregnancy, the fetus was shown to have normal chromosomes using the same 5 cosmid library probe and a locus-specific probe derived from the 5p15.3 region. The importance of incorporating FISH into the routine diagnostic laboratory is discussed.
荧光原位杂交(FISH)在一名患有猫叫综合征婴儿的母亲中发现了一种隐匿性平衡相互易位。使用来自流式细胞术分选的5号染色体黏粒文库的生物素化探针,显示先证者存在5p15.2远端缺失,且该片段在其母亲体内易位至7号染色体7p21的远端。在随后的一次妊娠中,使用相同的5个黏粒文库探针和一个源自5p15.3区域的位点特异性探针,显示胎儿染色体正常。文中讨论了将FISH纳入常规诊断实验室的重要性。