Multiple exostoses,mental retardation,hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion |
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| Authors: | Wim Wuyts Dominique Roland Hermann‐Josef Lüdecke Jan Wauters Martine Foulon Wim Van Hul Lionel Van Maldergem |
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| Institution: | 1. Department of Medical Genetics, University of Antwerp, Antwerp, Belgium;2. Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Loverval, Belgium;3. Institut für Humangenetik, Universitätsklinik, Essen, Germany;4. Department of Pediatrics, CHU, Charleroi, Belgium |
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| Abstract: | Multiple exostoses represent a genetically heterogeneous disorder that may occur isolated or as part of a complex contiguous gene syndrome such as Langer‐Giedion syndrome on chromosome 8 and the proximal 11p deletion syndrome on chromosome 11. Here we describe a boy with multiple exostoses, hypertrichosis, mental retardation, and epilepsy due to a de novo deletion on chromosome 8q24. Molecular analysis revealed that the deletion interval overlaps with the Langer‐Giedion syndrome and involves the EXT1 gene and additional genes located distal to EXT1, but probably not encompassing the TRPS1 gene located proximal to EXT1. © 2002 Wiley‐Liss, Inc. |
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| Keywords: | bone exostoses microdeletion syndrome hypertrichosis |
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