Epilepsy in trisomy 7 mosaicism: A case report and literature review

Published

Journal Article

Epilepsy is found to be frequently associated with many chromosomal disorders. We describe a 5-year-old boy with recurrent absence seizures, developmental delay, hypomelanosis of Ito, facial asymmetry and mild dysmorphic features that has tissue specific trisomy 7 mosaicism. We compare our patient with the long term surviving patients of mosaic trisomy 7 reported to date in the literature to highlight that epilepsy is a common feature in this chromosomal condition. The wide phenotypic variability of mosaic trisomy 7 is described. We conclude that a combination of epilepsy and hypomelanosis of Ito in a patient should prompt a clinician to think of chromosomal mosaicism, such as mosaic trisomy 7. © 2011 - IOS Press and the authors. All rights reserved.

Full Text

Duke Authors

Cited Authors

  • Veerapandiyan, A; Gallentine, WB; Schoch, K; Shashi, V

Published Date

  • March 1, 2011

Published In

Volume / Issue

  • 9 / 1

Start / End Page

  • 63 - 68

Electronic International Standard Serial Number (EISSN)

  • 1305-0613

International Standard Serial Number (ISSN)

  • 1304-2580

Digital Object Identifier (DOI)

  • 10.3233/JPN-2010-0442

Citation Source

  • Scopus