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

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

doi:10.1002/ajmg.1320450411

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

Am J Med Genet. 1993 Feb 15;45(4):450-5. doi: 10.1002/ajmg.1320450411.

Authors

F E Marchau¹, B C Van Roy, P M Parizel, J R Lambert, I De Canck, J G Leroy, C M Gevaert, P J Willems, J E Dumon

Affiliation

¹ Department of Medical Genetics, University of Antwerp-UIA, Belgium.

PMID: 8465849
DOI: 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).

MeSH terms

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