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).
Original language | English |
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Pages (from-to) | 450-455 |
Number of pages | 6 |
Journal | American Journal of Medical Genetics |
Volume | 45 |
Issue number | 4 |
DOIs | |
Publication status | Published - 15 Feb 1993 |
Externally published | Yes |