A final word on the tricho-rhino-phalangeal syndromes.
Chromosomal findings in the majority of cases of TRP II (or Langer-Giedion) syndrome and in some cases of TRP I syndrome lead to the conclusion that the former is due to a deletion extending from 8q24.11 to 8q24.13 whereas the latter is caused by an even smaller deleted segment, namely 8q24.12. A case of tricho-rhino-phalangeal syndrome type I with a mosaic deletion of band 8q24.12 is described.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities*; D002648:Child; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D008297:Male; D009030:Mosaicism; D009666:Nose / Q000002:abnormalities*; D013577:Syndrome