Tricho‐rhino‐phalangeal syndrome type I (TRP I) due to an apparently balanced translocation involving 8q24
- 15 February 1993
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 45 (4) , 450-455
- https://doi.org/10.1002/ajmg.1320450411
Abstract
Tricho‐rhino‐phalangeal (TRP) syndromes type I and II are caused by a defective gene located on chromosome 8q24.1. We report a family with 2 sibs affected with TRP type I in combination with an apparently balanced chromosome (8;18) translocation involving 8q24.11. It is very likely that the 8q24 translocation breakpoint is physically linked to the TRP gene(s), thereby facilitating future efforts to clone the TRP gene(s).Keywords
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