一个多发性染色体畸变家系的细胞遗传学分析

对一个染色体畸变家系细胞遗传学研究发现，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％，

Cytogenctics Analysis of A Family with Multiple Chromosome Aberrations

family of the chromosome aberrations was studied proband and his father chromosomes showedmultiple chromosome gaps and breakages. Deletions, translocations, triradials and quadriradials werealso founded. comparison analyses indicated that the number of chromosome gaps and breakages fromproband was significant correlation with that from his father in all corresponding chromosomes. 364gaps from proband chromosomes were the same as the gaps from his father chromosomes, accountingfor 81. 80%of all gaps an breakages of proband chromosomes. All the gaps and breakages of probandand his father founded at common fragile sites were 34. 16%and 32.30%respectivel, while these atrare fragile sites were 11. 24%and 9. 07%.