Langer-Giedion syndrome with del 8 (q24.13-q24.22).
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).
D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002898:Chromosomes, Human, Pair 8 / Q000648:ultrastructure*; D005097:Exostoses, Multiple Hereditary / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D008297:Male; D011859:Radiography