submitted on 2024-07-04, 05:09 and posted on 2024-07-04, 05:09authored byDina F. Ahram, Yasser Al‐Sarraj, Rowaida Z. Taha, Saba F. Elhag, Fouad A. Al‐Shaban, Hatem El‐Shanti, Marios Kambouris
<h3>Key Clinical Message</h3><p dir="ltr">15q deletions have been described in association with intellectual disability and autism spectrum disorder (ASD). Previous reports have supported the role of 15q24 low copy repeats (LCRs) in mediating alternatively sized genomic rearrangements. Based on our reported finding of a 15q24 deletion coinciding with two LCR regions in a patient with epilepsy and ASD, we recommend that patients with 15q24 deletions be evaluated for ASD for early institution of therapy.</p><h2>Other Information</h2><p dir="ltr">Published in: Clinical Case Reports<br>License: <a href="http://creativecommons.org/licenses/by-nc-nd/4.0/" target="_blank">http://creativecommons.org/licenses/by-nc-nd/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1002/ccr3.945" target="_blank">https://dx.doi.org/10.1002/ccr3.945</a></p><p dir="ltr">Additional institutions affiliated with: Shafallah Medical Genetics Center (2006-2011)</p>
Funding
Qatar National Research Fund (NPRP 6‐359‐3‐095), Gene identification in autosomal recessive familial epilepsy.