Langer-Giedion syndrome and 8q-deletion
✍ Scribed by Bühler, Erica M.
- Publisher
- John Wiley and Sons
- Year
- 1982
- Tongue
- English
- Weight
- 61 KB
- Volume
- 11
- Category
- Article
- ISSN
- 0148-7299
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We report on a girl with Langer-Giedion syndrome or tricho-rhino-phalangeal syndrome, type II (TRPS II) with deletion on 8q, and the unusual findings of bilateral tibial hemimelia and unilateral absence of the ulna. An 8-year-old boy with TRPS II with bilateral tibial hemimelia was reported by Turle
## Abstract Langer–Giedion syndrome results from a microdeletion at 8q24.1 encompassing the __EXT1__ and the adjacent __TRPS1__ gene. We report on a boy with an oligo array‐cgh characterized small microdeletion involving __EXT1__ alone but with some features of Langer–Giedion syndrome suggesting a