RUO - SHOX / SE X
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.
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