Salsa Mlpa Kit P018-d1 Shox

Mutations or deletions of the SHOX gene, located in the PAR1 region, are involved in idiopathic growth retardation. The SHOX gene escapes X inactivation in females. The growth failure of Turner Syndrome (X0) females is most likely the result of the presence of only one SHOX gene copy in each diploid cell (haploinsufficiency). The tall stature observed in Klinefelter (XXY) syndrome and in Triple X females (XXX) is probably the result of the presence of a third copy of the SHOX gene. Deletions of the p-end of the X chromosome, encompassing the SHOX gene, are detected in the majority of Leri-Weill dyschondrosteosis (LWD) patients. LWD is characterised by a disproportionate short stature with predominantly mesomelic limb shortening and Madelung deformity of the arm (Schiller et al. 2000 Europ. J. Hum. Genet. 8: 54-62). Deletion sizes found by these investigators varied from 100 Kb to 9 Mb and often did not correlate with the severity of the phenotype.