Third case of 8q23.3-q24.13 deletion in a patient with Langer–Giedion syndrome phenotype without TRPS1 gene deletion

Further case of microdeletion of 8q24 wi

Further case of microdeletion of 8q24 with phenotype overlapping Langer–Giedion without TRPS1 deletion

✍ Jacqueline McBrien; John Anthony Crolla; Shuwen Huang; Jerry Kelleher; John Glee 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 280 KB

## 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