TRICHORHINOPHALANGEAL SYNDROME TYPE-I (TRP-I) DUE TO AN APPARENTLY BALANCED TRANSLOCATION INVOLVING 8Q24

FE MARCHAU, BC VANROY, PM PARIZEL, C. LAMBERT, DECANCK, JG LEROY, CM GEVAERT, PJ WILLEMS, JE DUMON

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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 languageEnglish
Pages (from-to)450-455
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume45
Issue number4
DOIs
Publication statusPublished - 15 Feb 1993
Externally publishedYes

Cite this

MARCHAU, FE., VANROY, BC., PARIZEL, PM., LAMBERT, C., DECANCK, LEROY, JG., GEVAERT, CM., WILLEMS, PJ., & DUMON, JE. (1993). TRICHORHINOPHALANGEAL SYNDROME TYPE-I (TRP-I) DUE TO AN APPARENTLY BALANCED TRANSLOCATION INVOLVING 8Q24. American Journal of Medical Genetics, 45(4), 450-455. https://doi.org/10.1002/ajmg.1320450411