骨纤维异常增殖症中的克隆性结构染色体畸变。
Clonal structural chromosome aberrations in fibrous dysplasia.
作者信息
Mertens F, Albert A, Heim S, Lindholm J, Brosjö O, Mitelman F, Mandahl N
机构信息
Department of Clinical Genetics, Lund University Hospital, Sweden.
出版信息
Genes Chromosomes Cancer. 1994 Dec;11(4):271-2. doi: 10.1002/gcc.2870110411.
Cytogenetic analysis of short-term cultures from a case of monostotic fibrous dysplasia in a 14-year-old girl revealed multiple clonal structural rearrangements with evidence of clonal evolution. The karyotype was 46,XX,del(3)(q27),add(10)(q22),add(12)(p13)/46,idem,t(3;8)(p21;q13 ),add(10) (q26),der(15)del(15)del(15)(q15q22)ins(15;?) q15;?)/46,id em,-X,+2,t(3;8),add(10),der(15). The finding of clonal structural aberrations suggests that fibrous dysplasia is a neoplastic lesion which develops as the result of somatic mutations.
对一名14岁女孩单骨型骨纤维异常增殖症的短期培养细胞进行细胞遗传学分析，结果显示存在多个克隆性结构重排并有克隆进化的证据。核型为46,XX,del(3)(q27),add(10)(q22),add(12)(p13)/46,同型,t(3;8)(p21;q13),add(10)(q26),der(15)del(15)del(15)(q15q22)ins(15;?)q15;?)/46,同型,-X,+2,t(3;8),add(10),der(15)。克隆性结构畸变的发现表明，骨纤维异常增殖症是一种因体细胞突变而发生的肿瘤性病变。
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