Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-cd9895bd7-jkksz Total loading time: 0 Render date: 2024-12-28T16:22:31.092Z Has data issue: false hasContentIssue false

Chapter 42 - Inverted duplicated chromosome 15 (isodicentric chromosome 15)

from Section 3 - Symptomatic epilepsy

Published online by Cambridge University Press:  05 March 2012

By
Agatino Battaglia
Edited by
Simon D. Shorvon ,
Frederick Andermann  and
Renzo Guerrini
Simon D. Shorvon
Affiliation:
National Hospital for Neurology and Neurosurgery, London
Frederick Andermann
Affiliation:
Montreal Neurological Hospital and Institute
Renzo Guerrini
Affiliation:
Child Neurology Unit, Meyer Pediatric Hospital, Florence
Get access

Summary

Inverted duplicated chromosome 15 (idic (15)) is the most common of the heterogeneous group of the supernumerary marker chromosomes (SMCs). The idic (15) distinct behavior disorder has been described as autistic or autistic-like. Epilepsy represents one of the main clinical challenges in idic (15) individuals. It occurs with a wide variety of seizures, with onset between ages 6 months and 9 years. Infantile spasms associated with an hypsarrhythmic electroencephalogram (EEG) have been reported in several patients. Standard cytogenetics must be associated with fluorescent in situ hybridization (FISH) analysis, using probes both from proximal chromosome 15 and from the Prader-Willi syndrome/Angelman syndrome (PWS/AS) critical region. Although brain neuroimaging (CT/MRI) is reportedly normal in most idic (15) individuals brain MRI should be performed in all those having seizures, since a malformation of the cerebral cortex may modify prognosis and management. Regular follow-up of the seizure status and pharmacotherapy is essential.

Keywords

epilepsyhypomelanosisincontinentia pigmentiunilateral somatic intracranial hypoplasianeurocutaneous syndromesnevus sebaceous syndrome
Type
Chapter
Information
The Causes of Epilepsy
Common and Uncommon Causes in Adults and Children
 , pp. 281 - 284
Publisher: Cambridge University Press
Print publication year: 2011

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Save book to Kindle

To save this book to your Kindle, first ensure no-reply@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×