Investigação clínica e genética em meninas com baixa estatura idiopática

Abstract

Clinical and Genetic Studies in Girls With Idiopathic Short Stature.Ten girls with idiopathic short stature (ISS) were clinically reviewed and cytogenetic analysis performed by GTG-banding. Two abnormal karyotypes were identified: mos 45,X/46,XX and mos 45,X/46,X, der(Xp)/46,X,r(X). In the latter, FISH analysis and microsatellite investigation, including intragenic SHOX CA repeat, confirmed the origin of the abnormal structural chromosomes and revealed haploinsufficiency for the SHOX gene. In the remaining 8 p…