Affiliations: Department of Pediatrics, Division of Neurology, Duke
University Medical Center, Durham, NC, USA | Department of Pediatrics, Division of Medical
Genetics, Duke University Medical Center, Durham, NC, USA
Note: [] Correspondence: Dr. Vandana Shashi, M.D., Division of Medical
Genetics, Department of Pediatrics, Box 103857, GSRB1, Duke University Medical
Center, Durham, NC, USA. Tel.: +1 919 684 2036; +1 919 684 2036; Fax: +1 919
668 0414; E-mail: [email protected]
Abstract: 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.
Keywords: Trisomy 7, chromosomal mosaicism, seizures, epilepsy, hypomelanosis of Ito
