Tricho‐rhino‐phalangeal syndrome without exostoses, with an interstitial deletion of 8q23
- 30 April 1986
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 29 (5) , 434-438
- https://doi.org/10.1111/j.1399-0004.1986.tb00517.x
Abstract
We report on a patient with the Tricho-Rhino-Phalangeal syndrome (TRPS) with normal mentation, without exostoses and with a partial microdeletion of 8q23. Although she had the phenotypic characteristics of TRPS Type I, karyotypic analysis demonstrated the 8q-microdeletion usually associated with TRPS Type II, in which exotoses are present. Our patient represents the second reported instance of this phenotypic chromosomal association and provides further evidence for homogeneity of the TRPS.Keywords
This publication has 17 references indexed in Scilit:
- 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
- Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)?Human Genetics, 1983
- Two cases of the Langer-Giedion syndrome with the same interstitial deletion of the long arm of chromosome 8: 46,XY or XX,del(8)(q23.3q24.13)Human Genetics, 1983
- Interstitial Deletion of 8qAmerican Journal of Diseases of Children, 1983
- Langer-Giedion syndrome and deletion of the long arm of chromosome 8Human Genetics, 1981
- Chromosome deletion and multiple cartilaginous exostosesEuropean Journal of Pediatrics, 1980
- Frontometaphyseal dysplasia: autosomal dominant or X-linked?Journal of Medical Genetics, 1980
- Interstitial delection of the long arm of chromosome 8Human Genetics, 1979
- AN UNDIAGNOSED BONE DYSPLASIAAmerican Journal of Roentgenology, 1966