alexa Microdeletion of chromosome 15q26.1 in a child with intractable generalized epilepsy.
Genetics & Molecular Biology

Genetics & Molecular Biology

Journal of Down Syndrome & Chromosome Abnormalities

Author(s): Dhamija R, Breningstall G, WongKisiel L, Dolan M, Hirsch B

Abstract Share this page


Chromosomal abnormalities involving deletions and duplications are known to cause severe developmental disorders, including mental retardation, dysmorphism, and seizures, in children. As the technique of array-based comparative genomic hybridization is being applied more frequently in the diagnostic evaluation of children with developmental disorders, novel pathologic chromosomal abnormalities are being identified. We report the case of a 9-year-old girl with a history of pervasive developmental disorder, growth delay, mild dysmorphic features, and intractable primary generalized epilepsy with a de novo microdeletion of approximately 0.73-0.94 Mb within chromosome 15q26.1. A much larger (5 Mb) but overlapping microdeletion has been previously reported in a 30-month-old child with similar phenotype including intractable myoclonic epilepsy, growth delay, and dysmorphic features. This leads us to propose that a potential candidate gene or genes within the deleted region involved in the pathogenesis of some forms of generalized intractable epilepsy, previously considered to be idiopathic.

This article was published in PediatrNeurol and referenced in Journal of Down Syndrome & Chromosome Abnormalities

Relevant Expert PPTs

Relevant Speaker PPTs

Recommended Conferences

Relevant Topics

Peer Reviewed Journals
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version