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Further case of microdeletion of 8q24 with phenotype overlapping Langer–Giedion without TRPS1 deletion
Author(s) -
McBrien Jacqueline,
Crolla John Anthony,
Huang Shuwen,
Kelleher Jerry,
Gleeson John,
Lynch Sally Ann
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32347
Subject(s) - phenotype , genetics , gene , biology
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.