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A chromosomal microdeletion of 15q in a female patient with epilepsy, ID, and autism spectrum disorder: a case report

journal contribution
submitted on 2024-07-04, 05:09 and posted on 2024-07-04, 05:09 authored by Dina F. Ahram, Yasser Al‐Sarraj, Rowaida Z. Taha, Saba F. Elhag, Fouad A. Al‐Shaban, Hatem El‐Shanti, Marios Kambouris

Key Clinical Message

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.

Other Information

Published in: Clinical Case Reports
License: http://creativecommons.org/licenses/by-nc-nd/4.0/
See article on publisher's website: https://dx.doi.org/10.1002/ccr3.945

Additional institutions affiliated with: Shafallah Medical Genetics Center (2006-2011)

Funding

Qatar National Research Fund (NPRP 6‐359‐3‐095), Gene identification in autosomal recessive familial epilepsy.

History

Language

  • English

Publisher

Wiley

Publication Year

  • 2017

License statement

This Item is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Institution affiliated with

  • Hamad Bin Khalifa University
  • Qatar Biomedical Research Institute - HBKU
  • Neurological Disorders Research Center - QBRI

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    Qatar Biomedical Research Institute - HBKU

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