October - December 2015, Volume 11, Issue 4

Miclea DL, Al Khzouz C, Bucerzan S, Cret V, Lazea C, Nascu I, Man S, Iurian S, Popp RA, Cornean RE, Cuzmici Z, Mirea A, Grigorescu-Sido P, Pop IV

Assessment of the Shox Gene and Chromosomal Abnormalities by Molecular and Classical Cytogenetics in Patients with Short Stature

Acta Endo (Buc) 2015, 11 (4): 463-469
doi: 10.4183/aeb.2015.463

Context. Genetic factors are responsible for up to 80% of height variation in humans. SHOX gene mutation could be an important etiologic factor in short stature, being observed in up to 15% of patients. Aim. Our aim was to evaluate the genetic causes of short stature, using classical and molecular cytogenetic techniques by analyzing a group of Romanian patients diagnosed with short stature. Material and methods. Seventy nine patients were analyzed and the main criteria for inclusion in the study was the presence of a height below -2DS. For each of these patients a karyotype was performed. In those with normal karyotype it was indicated FISH technique using probes for SHOX and centromeric regions. Results and discussion. The karyotype revealed the presence of abnormalities in 13 patients (16%), 62% (8 patients) of these being represented by heterosomal abnormalities. SHOX deletion was seen in one patient (2.3%) with short stature and normal karyotype. The initial analysis of the cases with short stature directly by FISH technique can be proposed, using probes for X chromosome centromere and SHOX gene, because it allows, approximately at the same costs with the karyotype, but faster and at a higher rate of mosaicism detection, the explanation of short stature by sex chromosomes abnormalities.

Keywords: short stature, FISH technique, SHOX gene, karyotype

Correspondence: Diana Laura Miclea MD, “Iuliu Hatieganu” University of Medicine and Pharmacy Cluj Napoca, Department of Medical Genetics, 8 Babes Street, Cluj Napoca, 400012, Romania, E-mail: bolca12diana@yahoo.com