Individuals with SHOX-related short stature have disproportionate short stature and/or wrist abnormalities consistent with those described in Madelung deformity. The SHOX genes located on the pseudoautosomal regions of the X and Y chromosomes are the only genes known to be associated with SHOX-related haploinsufficiency. The SHOX region probe is optimized to detect copy numbers of the SHOX gene region at Xp22. The chromosome X Satellite Enumeration (SE X) FISH probe at DXZ1 is added to facilitate chromosome identification.
Rao et al, 1997, Hum. Genet., 100; 236-239.
Morizio et al, 2003, Am. J. Med. Genet., 119; 293-296.