Summary
Reexamination of a previously reported patient with 8q interstitial deletion reveals the development of a tricho-rhinophalangeal syndrome type II (Langer-Giedion syndrome) with multiple exostoses at the age of 4 years. Together with the two previous reports on 8q deletion and TRP II syndrome the present observation strongly supports the causal relationship between TRP II syndrome and 8q deletion.
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References
Bühler EM, Bühler UK, Stalder GR, Jani L, Jurik LP (1980) Chromosome deletion and multiple cartilaginous exostoses. Eur J Pediatr 133:163–166
Fryns JP, Logghe N, Eygen M van, Berghe H Van den (1979) Interstitial deletion of the long arm of chromosome 8 Hum Genet 48: 127–130
Pfeiffer RA (1980) Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 (46,XY,del(8)(q13-22)). Clin Genet 18:142–146
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Fryns, J.P., Logghe, N., van Eygen, M. et al. Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Hum Genet 58, 231–232 (1981). https://doi.org/10.1007/BF00278720
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DOI: https://doi.org/10.1007/BF00278720