title: Isochromosomes of both short and long arms of chromosome 12 resulting in an additional copy of chromosome 12 in a case of splenic lymphoma with villous lymphocytes.
abstract: We report a case of splenic lymphoma with villous lymphocytes showing a karyotype with an isochromosome for both the long arm and the short arm of chromosome 12, i(12)(p10) and i(12)(q10), effectively resulting in trisomy 12. This is, apparently, the first documented case of an additional copy of chromosome 12 resulting from isochromosome formation in a neoplastic disorder.
authors.affiliation: Institute of Medical Genetics, University Hospital of Wales Healthcare NHS Trust, Heath Park, Cardiff, United Kingdom.
authors.forename: S M
authors.initials: SM
authors.lastname: Morgan
authors.forename: S H
authors.initials: SH
authors.lastname: Roberts
authors.forename: P W
authors.initials: PW
authors.lastname: Thompson
authors.forename: C
authors.initials: C
authors.lastname: De Alwis
mesh_terms: D000368:Aged; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D018404:Isochromosomes / Q000235:genetics*; D007621:Karyotyping; D008214:Lymphocytes / Q000473:pathology; D016393:Lymphoma, B-Cell / Q000235:genetics* / Q000276:immunology; D008297:Male; D013160:Splenic Neoplasms / Q000235:genetics* / Q000276:immunology; D014314:Trisomy