The critical segment for the Langer-Giedion syndrome: 8q24.11----q24.12.
An 18-year-old intellectually normal male with characteristic features of the Langer-Giedion syndrome is reported. High resolution chromosome analysis showed a small deletion in the region of bands 8q24.11 and 8q24.12 in addition to an apparently balanced de novo translocation (2;9)(q21;q13). This finding provides additional information on the minimum deleted segment required to produce the Langer-Giedion syndrome and may indicate that deletions of this size or smaller are not necessarily associated with mental retardation.
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities; D005385:Fingers / Q000002:abnormalities; D006197:Hair / Q000002:abnormalities; D006801:Humans; D008297:Male; D011884:Radius / Q000002:abnormalities; D013577:Syndrome; D014178:Translocation, Genetic; D014457:Ulna / Q000002:abnormalities