Tricho-rhino-phalangeal syndrome type I (TRP I) due to an apparently balanced translocation involving 8q24.
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).
Marchau
F E
FE
Department of Medical Genetics, University of Antwerp-UIA, Belgium.
Van Roy
B C
BC
Parizel
P M
PM
Lambert
J R
JR
De Canck
I
I
Leroy
J G
JG
Gevaert
C M
CM
Willems
P J
PJ
Dumon
J E
JE
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