Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion.
We report a 19-year-old boy with an interstitial deletion of the long arm of chromosome 8 (46, XY, del(8)(pter----q23.3: :q24.13----qter)). He shows the typical clinical symptoms of tricho-rhino-phalangeal syndrome (TRPI) and severe mental retardation, however without multiple exostoses. This is the second report of a combination of abnormalities and interstitial deletion of 8q.
Hamers
A
A
Department of Genetics and Cell Biology, University of Limburg Maastricht, The Netherlands.
Jongbloet
P
P
Peeters
G
G
Fryns
J P
JP
Geraedts
J
J
D000328:Adult; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8; D005532:Foot Deformities, Congenital; D006228:Hand Deformities, Congenital; D006801:Humans; D007039:Hypotrichosis; D008607:Intellectual Disability; D008297:Male; D009666:Nose / Q000002:abnormalities; D013577:Syndrome