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Clonal structural chromosome aberrations in fibrous dysplasia
Authors:Fredrik Mertens  Auxilium Albert  Sverre Heim  Johan Lindholm  Otte Brosj  Felix Mitelman  Nils Mandahl
Affiliation:Fredrik Mertens,Auxilium Albert,Sverre Heim,Johan Lindholm,Otte Brosjö,Felix Mitelman,Nils Mandahl
Abstract: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)(q15q22)ins(15;?)(q15;?)/46,idem,-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.
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