title: Tricho-rhino-phalangeal syndrome type I (TRP I) due to an apparently balanced translocation involving 8q24.
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).
authors: Department of Medical Genetics, University of Antwerp-UIA, Belgium.
authors: F E
authors: FE
authors: Marchau
authors: B C
authors: BC
authors: Van Roy
authors: P M
authors: PM
authors: Parizel
authors: J R
authors: JR
authors: Lambert
authors: I
authors: I
authors: De Canck
authors: J G
authors: JG
authors: Leroy
authors: C M
authors: CM
authors: Gevaert
authors: P J
authors: PJ
authors: Willems
authors: J E
authors: JE
authors: Dumon
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002871:Chromosome Banding; D002887:Chromosomes, Human, Pair 18; D002898:Chromosomes, Human, Pair 8; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006197:Hair / Q000002:abnormalities; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D009666:Nose / Q000002:abnormalities; D010009:Osteochondrodysplasias / Q000235:genetics; D010388:Pelvis / Q000002:abnormalities; D013577:Syndrome; D014178:Translocation, Genetic