Abstract
We report a boy with a trichorhinophalangeal syndrome (TRP syndrome), severe mental retardation, and transient megacephaly, whose karyotype showed complex, apparently balanced, translocations with breakpoints in bands 3q13, 8p22, 8q13, 11p12, and 11q21. The fact that cases presenting with phenotypes corresponding to the TRP II syndrome and deletions of the long arm of chromosome 8 have been recently reported prompted us to report this case to help in the clarification of the possible relation between 8q chromosomal mutation and the aetiology of TRP syndromes.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Beighle C., Karp L. E., Hanson J. W., Hall J. G., Hoehn H. Small structural changes of chromosome 8. Two cases with evidence for deletion. Hum Genet. 1977 Aug 31;38(1):113–121. doi: 10.1007/BF00295814. [DOI] [PubMed] [Google Scholar]
- Giedion A. Das tricho-rhino-phalangeale Syndrom. Helv Paediatr Acta. 1966 Nov;21(5):475–485. [PubMed] [Google Scholar]
- Taysi K., Noetzel M. J., Strauss A. W. Presumptive long arm deletion of chromosome 8: a new syndrome? Hum Genet. 1979 Sep 2;51(1):49–53. doi: 10.1007/BF00278291. [DOI] [PubMed] [Google Scholar]
- Zaletajev D. V., Marincheva G. S. Langer-Giedion syndrome, in a child with complex structural aberration of chromosome 8. Hum Genet. 1983;63(2):178–182. doi: 10.1007/BF00291541. [DOI] [PubMed] [Google Scholar]