Tricho‐rhino‐phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3–24.13
- 1 January 1989
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 32 (1) , 133-135
- https://doi.org/10.1002/ajmg.1320320128
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.Keywords
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