Chromosome deletion and multiple cartilaginous exostoses
- 1 March 1980
- journal article
- case report
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 133 (2) , 163-166
- https://doi.org/10.1007/bf00441586
Abstract
We report a 13 year-old girl with manifestations strikingly reminiscent of the tricho-rhino-phalangeal (TRP) II or Langer-Giedion syndrome. A terminal deletion of 8q must be assumed to be the cause of her condition till proven otherwise. A similar chromosome abnormality should be searched for (blindly) in other cases of the TRP II previously thought to have had normal chromosomes.Keywords
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