Langer‐Giedion syndrome with del 8 (q24.13‐q24.22)

Abstract

An 8-year-old boy with the features of Langer-Giedion syndrome except for short stature is described. Chromosome analysis using high resolution G-banding techniques revealed an interstitial deletion of the long arm of chromosome 8:46,XY,del(8)(q24.13-q24.22).