Tricho‐rhino‐phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3–24.13

Abstract
Here we report on a 13‐year‐old boy who had an interstitial deletion of the long arm of chromosome 8 [46,XY,del(8)(pter→q23.3::q24.13→qter)]. He had the facial features of the tricho‐rhino‐phalangeal (TRP) syndrome and severe mental retardation, but lacked multiple exostoses. This is the first report with such a peculiar combination of abnormalities and interstitial deletion of 8q.