Cytogenetic and Molecular Genetic Characterization of Children with Short Stature.

ABSTRACT:

Background

The deficiency of SHOX gene (short stature homeobox-containing gene) has been recognized as the most frequent monogenetic cause of short stature. SHOX gene has been associated with short stature in Turner syndrome and Leri Weill dyschondrosteosis as well with non-syndromic idiopathic short stature. The aim of this study was to determine the frequency of SHOX deletions and mutations in a cohort of Slovenian children with short stature, and to delineate indications for routine SHOX gene mutation screening.

Methods and results

40 selected subjects with idiopathic short stature were screened for entire SHOX gene deletion and for mutations in the SHOX gene coding region (exon 2 to 6), together with sequences flanking the exon-intron boundaries. FISH analysis on metapha

SUBMITTER: Hovnik T 

PROVIDER: S-EPMC4820174 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature