Cytogenetics
loss of distal 8q (11793371)
Predisposition
multiple osteochondromas (or hereditary multiple exostoses (HME) or osteochnondromatosis)
- type 1 (MIM.133700): EXT1 germline mutations
- type 2 (MIM.133701): EXT2 germline mutations
References
Tallini G, Dorfman H, Brys P, Dal Cin P, De Wever I, Fletcher CD, Jonson K, Mandahl N, Mertens F, Mitelman F, Rosai J, Rydholm A, Samson I, Sciot R, Van den Berghe H, Vanni R, Willen H. Correlation between clinicopathological features and karyotype in 100 cartilaginous and chordoid tumours. A report from the Chromosomes and Morphology (CHAMP) Collaborative Study Group. J Pathol. 2002 Feb;196(2):194-203. PMID: 11793371