The tricho-rhino-phalangeal syndrome(s): chromosome 8 long arm deletion: is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: are they separate entities?
Critical cytogenetic (re)evaluation of 2 of our own cases of tricho-rhino-phalangeal syndrome II (TRP II), or Langer-Giedion syndrome (LGS), and 10 cases from the literature, suggests that the shortest region of overlap of the 8q deletion is a part of band q24.1. This region is assumed to be causally related to this syndrome, and possibly also to TRP I syndrome which, therefore, may not be a causally separate entity.
D000015:Abnormalities, Multiple / Q000145:classification / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D006801:Humans; D007621:Karyotyping; D013577:Syndrome