Tricho-rhino-phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3-24.13.
Here we report on a 13-year-old boy who had an interstitial deletion of the long arm of chromosome 8 [46,XY,del(8)(pter----q23.3::q24.13----qter)]. He had the facial features of the tricho-rhino-phalangeal (TRP) syndrome and severe mental retardation, but lacked multiple exostoses. This is the first report with such a peculiar combination of abnormalities and interstitial deletion of 8q.
Yamamoto
Y
Y
Department of Pediatrics, Jichi Medical School, Tochigi, Japan.
Oguro
N
N
Miyao
M
M
Yanagisawa
M
M
D002871:Chromosome Banding; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D005149:Facial Expression; D005385:Fingers / Q000002:abnormalities; D006197:Hair / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009666:Nose / Q000002:abnormalities; D010641:Phenotype; D013577:Syndrome