Short Stature SHOX (Xp22) / SE X probe hybridized to a male metaphase (2R1G).

RUO - SHOX / SE X

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.

References:

Rao et al, 1997, Hum. Genet., 100; 236-239.

Morizio et al, 2003, Am. J. Med. Genet., 119; 293-296.

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KI-40112
SHOX (Xp22) / SE X
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