Case Reports
doi: 10.1111/j.1399-0004.1987.tb02806.x.
A final word on the tricho-rhino-phalangeal syndromes
- PMID: 3594935
- DOI: 10.1111/j.1399-0004.1987.tb02806.x
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Case Reports
A final word on the tricho-rhino-phalangeal syndromes
Clin Genet.
1987 Apr.
Abstract
Chromosomal findings in the majority of cases of TRP II (or Langer-Giedion) syndrome and in some cases of TRP I syndrome lead to the conclusion that the former is due to a deletion extending from 8q24.11 to 8q24.13 whereas the latter is caused by an even smaller deleted segment, namely 8q24.12. A case of tricho-rhino-phalangeal syndrome type I with a mosaic deletion of band 8q24.12 is described.
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