title: Clonal structural chromosome aberrations in fibrous dysplasia.
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)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.
authors.affiliation: Department of Clinical Genetics, Lund University Hospital, Sweden.
authors.forename: F
authors.initials: F
authors.lastname: Mertens
authors.forename: A
authors.initials: A
authors.lastname: Albert
authors.forename: S
authors.initials: S
authors.lastname: Heim
authors.forename: J
authors.initials: J
authors.lastname: Lindholm
authors.forename: O
authors.initials: O
authors.lastname: Brosjö
authors.forename: F
authors.initials: F
authors.lastname: Mitelman
authors.forename: N
authors.initials: N
authors.lastname: Mandahl
mesh_terms: D000293:Adolescent; D001859:Bone Neoplasms / Q000235:genetics / Q000648:ultrastructure; D002869:Chromosome Aberrations / Q000235:genetics*; D002999:Clone Cells / Q000648:ultrastructure; D005260:Female; D005358:Fibrous Dysplasia, Monostotic / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007621:Karyotyping