Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion

Wuyts, W.;Roland, D.;Ludecke, HJ;Wauters, J.;Van Maldergem, L.;et.al.
(2002) 49th Annual Meeting of the American-Society-of-Human-Genetics — Location: SAN FRANCISCO(California) (19.October.1999)

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Authors
  • Wuyts, W.
    Author
  • Roland, D.
    Author
  • Ludecke, HJ
    Author
  • Wauters, J.
    Author
  • Foulon, MichelUCLouvain
    Author
  • Van Maldergem, L.
    Author
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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. (C) 2002 Wiley-Liss, Inc.
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Wuyts, W., Roland, D., Ludecke, H., Wauters, J., Foulon, M., Van Hul, W., & Van Maldergem, L. (2002). Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion. American Journal of Medical Genetics, 113(4), 326-332. https://doi.org/10.1002/ajmg.10845 (Original work published 2002)