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

✍ Scribed by Jacqueline McBrien; John Anthony Crolla; Shuwen Huang; Jerry Kelleher; John Gleeson; Sally Ann Lynch

• Publisher: John Wiley and Sons
• Year: 2008
• Tongue: English
• Weight: 280 KB
• Volume: 146A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.32347

✦ Synopsis

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 functional disturbance of TRPS1. This boy, in addition to a mild Langer–Giedion like phenotype, also had some unusual features including prominent toe pads and fat pads on the soles of his feet similar to those described in Pierpont syndrome. © 2008 Wiley‐Liss, Inc.