title: Tricho-rhino-phalangeal syndrome without exostoses, wih an interstitial deletion of 8q23.
abstract: We report on a patient with the Tricho-Rhino-Phalangeal syndrome (TRPS) with normal mentation, without exostoses and with a partial microdeletion of 8q23. Although she had the phenotypic characteristics of TRPS Type I, karyotypic analysis demonstrated the 8q-microdeletion usually associated with TRPS Type II, in which exostoses are present. Our patient represents the second reported instance of this phenotypic chromosomal association and provides further evidence for homogeneity of the TRPS.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D005096:Exostoses / Q000235:genetics; D005260:Female; D006197:Hair / Q000002:abnormalities; D006228:Hand Deformities, Congenital; D006801:Humans; D009666:Nose / Q000002:abnormalities; D013577:Syndrome