Abstract
We report a 19-year-old boy with an interstitial deletion of the long arm of chromosome 8 (46, XY, del(8)(pter→q23.3∶∶q24.13→qter)). He shows the typical clinical symptoms of tricho-rhino-phalangeal syndrome (TRPI) and severe mental retardation, however without multiple exostoses. This is the second report of a combination of abnormalities and interstitial deletion of 8q.
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Hamers, A., Jongbloet, P., Peeters, G. et al. Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion. Eur J Pediatr 149, 618–620 (1990). https://doi.org/10.1007/BF02034746
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DOI: https://doi.org/10.1007/BF02034746