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

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 coinc...

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Autores principales: Ahram, Dina F., Al‐Sarraj, Yasser, Taha, Rowaida Z., Elhag, Saba F., Al‐Shaban, Fouad A., El‐Shanti, Hatem, Kambouris, Marios
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5457985/
https://www.ncbi.nlm.nih.gov/pubmed/28588858
http://dx.doi.org/10.1002/ccr3.945
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author Ahram, Dina F.
Al‐Sarraj, Yasser
Taha, Rowaida Z.
Elhag, Saba F.
Al‐Shaban, Fouad A.
El‐Shanti, Hatem
Kambouris, Marios
author_facet Ahram, Dina F.
Al‐Sarraj, Yasser
Taha, Rowaida Z.
Elhag, Saba F.
Al‐Shaban, Fouad A.
El‐Shanti, Hatem
Kambouris, Marios
author_sort Ahram, Dina F.
collection PubMed
description 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.
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spelling pubmed-54579852017-06-06 A chromosomal microdeletion of 15q in a female patient with epilepsy, ID, and autism spectrum disorder: a case report Ahram, Dina F. Al‐Sarraj, Yasser Taha, Rowaida Z. Elhag, Saba F. Al‐Shaban, Fouad A. El‐Shanti, Hatem Kambouris, Marios Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2017-05-12 /pmc/articles/PMC5457985/ /pubmed/28588858 http://dx.doi.org/10.1002/ccr3.945 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Ahram, Dina F.
Al‐Sarraj, Yasser
Taha, Rowaida Z.
Elhag, Saba F.
Al‐Shaban, Fouad A.
El‐Shanti, Hatem
Kambouris, Marios
A chromosomal microdeletion of 15q in a female patient with epilepsy, ID, and autism spectrum disorder: a case report
title A chromosomal microdeletion of 15q in a female patient with epilepsy, ID, and autism spectrum disorder: a case report
title_full A chromosomal microdeletion of 15q in a female patient with epilepsy, ID, and autism spectrum disorder: a case report
title_fullStr A chromosomal microdeletion of 15q in a female patient with epilepsy, ID, and autism spectrum disorder: a case report
title_full_unstemmed A chromosomal microdeletion of 15q in a female patient with epilepsy, ID, and autism spectrum disorder: a case report
title_short A chromosomal microdeletion of 15q in a female patient with epilepsy, ID, and autism spectrum disorder: a case report
title_sort chromosomal microdeletion of 15q in a female patient with epilepsy, id, and autism spectrum disorder: a case report
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5457985/
https://www.ncbi.nlm.nih.gov/pubmed/28588858
http://dx.doi.org/10.1002/ccr3.945
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