Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion
- 31 May 1990
- journal article
- research article
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 149 (9) , 618-620
- https://doi.org/10.1007/bf02034746
Abstract
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.This publication has 19 references indexed in Scilit:
- Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13-22)Clinical Genetics, 2008
- Tricho‐rhino‐phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3–24.13American Journal of Medical Genetics, 1989
- A final word on the tricho‐rhino‐phalangeal syndromesClinical Genetics, 1987
- The tricho‐rhino‐phalangeal syndrome(s): Chromosome 8 long arm deletion: Is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: Are they separate entities?American Journal of Medical Genetics, 1984
- Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Confirmation of the critical segment to 8q23Human Genetics, 1983
- Mid-prophase human chromosomes. The attainment of 2000 bandsHuman Genetics, 1981
- Chromosome deletion and multiple cartilaginous exostosesEuropean Journal of Pediatrics, 1980
- Tricho-rhino-phalangeal syndrome Type IIJournal of Human Genetics, 1979
- Banding of human chromosomes with basic fuchsinHuman Genetics, 1976
- Tricho-rhino-phalangeales Syndrom mit autosomal dominantem ErbgangEuropean Journal of Pediatrics, 1975