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

McBrien, Jacqueline, Crolla, John Anthony, Huang, Shuwen, Kelleher, Jerry, Gleeson, John and Lynch, Sally Ann (2008) Further case of microdeletion of 8q24 with phenotype overlapping Langer-Giedion without TRPS1 deletion. American Journal of Medical Genetics part A, 146A (12), 1587-1592. (doi:10.1002/ajmg.a.32347).

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.

This record has no associated files available for download.

Contributors

Download statistics