title: Complex chromosome rearrangements in an extraabdominal desmoid tumor.
abstract: Cytogenetic studies of an extraabdominal desmoid tumor revealed karyotypic abnormalities in 20 of 50 analyzed metaphases, with no less than 13 clonal marker chromosomes, 11 of which could be at least partially identified. The hypodiploid stemline karyotype was interpreted as: 43-45,XX,-1,-1, + der(1)(?::1p36----1q21::?) + der(1)t(1;?)(p11;?), + der(1) (1pter----1p31::1p11----1cen----1q32::?),- 3,del(3)(p12), + der(3)t[del(3)(p12);?](q25;?), + der(6) t(6;?)(q15;?),-8,-9,-9,-10, + der(10)t(10;?)(p13;?),-12, + der(12)(?::12q14----12q23::?), -13, -13,-15,-19,dic(21;22)(p13;q13),-21, + der(21)t(21;?)(p13;?),-22, + der(22)t(22;?)(q13;?), + 1-3mar/46,XX. This finding of clonal chromosome rearrangements strongly suggests that extraabdominal desmoid tumor is a neoplastic disease.
authors.affiliation: Department of Clinical Genetics, Lund University Hospital, Sweden.
authors.forename: I
authors.initials: I
authors.lastname: Karlsson
authors.forename: N
authors.initials: N
authors.lastname: Mandahl
authors.forename: S
authors.initials: S
authors.lastname: Heim
authors.forename: A
authors.initials: A
authors.lastname: Rydholm
authors.forename: H
authors.initials: H
authors.lastname: Willén
authors.forename: F
authors.initials: F
authors.lastname: Mitelman
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D005260:Female; D005350:Fibroma / Q000235:genetics* / Q000473:pathology; D005819:Genetic Markers; D006801:Humans; D007621:Karyotyping; D012983:Soft Tissue Neoplasms / Q000235:genetics
chemical_list: D005819:Genetic Markers