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对一个染色体畸变家系细胞遣传学研究发现,先证者及其父的外周血淋巴细胞染色体有多发性染色体裂隙,并伴有断裂、缺失、易位、三射体和四射体等多种染色体畸变。两者的染色体裂隙和断裂数目的比较分析表明:先证者及其父的各对应染色体的裂隙数目密切相关。先证者364个染色体裂隙区带与其父的裂隙区带相同,占前者全部裂隙和断裂数的81.80%,两者的裂隙和断裂区带发生在常见的脆性位点的分别为34.16%和32.30%,发生在罕见脆性位点的分别为11.24%和9.07%。
On a chromosomal aberration pedigree cell deportation study found that the proband and his father’s peripheral blood lymphocyte chromosomes have multiple chromosomal fissures, and accompanied by rupture, deletion, translocation, and other emitters and a variety of Chromosome aberration. A comparative analysis of the number of chromosome fissures and the number of fractures showed that there was a close correlation between the number of fissures in each corresponding chromosome of the proband and his father. The 364 chromosomal fissure zones of the probands were the same as those of their parents, accounting for 81.80% of the total number of fissures and fractures of the former, and the fissures and fracture zones of the two originated from the common fissile sites at 34 and 34 respectively. 16% and 32.30%, respectively, at 11.24% and 9.07% in rare and brittle loci.