Short stature is under genetic and environmental factors and affects 2-3 % of general population. SHOX gene is localised in the pseudoautosomal regions of the short arms of X and Y chromosomes and escapes X inactivation. It has shown that the deletions or mutations of the gene causes Turner Syndrome (TS), Idiopathic Short Stature (ISS) and Leri-Weill Dyschondrosteosis (LWD) seen in human. In this study, it is aimed to scan the complete deletions of SHOX gene in individuals with ISS by FISH method, Y35X mutations detected in LWD patiens localised in exon 2 and A-337G mutations detected in ISS patients with molecular methods.

In this study, 61 individuals with ISS were detected. It has shown with standard cytogenetics techniques that cases have normal karyotypes. 8 individuals with the shortest stature were chosen from case group and their SHOX genes were controlled by FISH technique. For all cases, exon 2 was amplified by PCR and to determine Y35X and A-337G mutations, Rsa I and Alu I enzymes were used. In 61 individuals with ISS, conventional cytogenetics, molecular cytogenetics and molecular genetics studies didn't show any abnormalities.

It is important to study molecular genetics techniques with conventional cytogenetics and molecular cytogenetics techniques in individuals with ISS in an extensive way. This study shows that to scan the mutations within the SHOX gene, it is more appropriate to use the techniques especially like SSCP or DNA sequancing which determine all mutations in this gene. We consider that for taking preventive measures against diseases associated with or think to be associated with short stature and increasing the quality of life of the individuals with short stature, to research SHOX gene and other genes related to growth will be guide.