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Tricho-rhino-phalangeal syndrome type I (TRP I) due to an apparently balanced translocation involving 8q24.

Marchau, F E; Van Roy, B C; Parizel, P M; Lambert, J R; De Canck, I; Leroy, J G; Gevaert, C M; Willems, P J; Dumon, J E.

Am J Med Genet ; 45(4): 450-5, 1993 Feb 15.

Article in English | MEDLINE | ID: mdl-8465849

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).

Subject(s)

Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 18 , Chromosomes, Human, Pair 8 , Translocation, Genetic , Adult , Chromosome Banding , Female , Fingers/abnormalities , Hair/abnormalities , Humans , Infant , Karyotyping , Male , Nose/abnormalities , Osteochondrodysplasias/genetics , Pelvis/abnormalities , Syndrome

ABSTRACT

Subject(s)

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