Tibial hemimelia in Langer–Giedion syndrome with 8q23.1-q24.12 interstitial deletion
✍ Scribed by Daniel Rocha Carvalho; Savana Camilla Lima Santos; Maria Dulce Valverde Oliveira; Carlos Eduardo Speck-Martins
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 222 KB
- Volume
- 155
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
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
A 17-year-old boy who was diagnosed with ''Waardenburg syndrome'' showed moderate growth and mental retardation. Chromosome analysis showed an apparent interstitial deletion 4q12q21.1. The mother had a direct insertion of the deleted segment into a chromosome 8. The rearrangement was confirmed to be