Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)?
Reexamination with high resolution banding of the first ever published case of Langer-Giedion syndrome with 8q deletion as well as chromosome examination of a second case of this syndrome with different high resolution methods, confirmed our previous assumption of a terminal 8q involvement in the causation of TRP II syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X / Q000648:ultrastructure*; D005385:Fingers / Q000002:abnormalities*; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D008297:Male; D009666:Nose / Q000002:abnormalities*; D013577:Syndrome