Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder

Various chromosomal anomalies including small supernumerary marker chromosome (sSMC) and Uniparental disomy (UPD) have been described in association with intellectual disability and autism spectrum disorder. Based on our reported findings, we recommend that patients with sSMC(8) be evaluated for aut...

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Autores principales: Ahram, Dina F., Stambouli, Danae, Syrogianni, Aleksandra, Al‐Sarraj, Yasser, Gerou, Spyridon, El‐Shanti, Hatem, Kambouris, Marios
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5134130/
https://www.ncbi.nlm.nih.gov/pubmed/27980747
http://dx.doi.org/10.1002/ccr3.705
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author Ahram, Dina F.
Stambouli, Danae
Syrogianni, Aleksandra
Al‐Sarraj, Yasser
Gerou, Spyridon
El‐Shanti, Hatem
Kambouris, Marios
author_facet Ahram, Dina F.
Stambouli, Danae
Syrogianni, Aleksandra
Al‐Sarraj, Yasser
Gerou, Spyridon
El‐Shanti, Hatem
Kambouris, Marios
author_sort Ahram, Dina F.
collection PubMed
description Various chromosomal anomalies including small supernumerary marker chromosome (sSMC) and Uniparental disomy (UPD) have been described in association with intellectual disability and autism spectrum disorder. Based on our reported findings, we recommend that patients with sSMC(8) be evaluated for autism spectrum disorder (ASD) for early institution of therapy. In the presence of an identifiable sSMC, exploration of UPD is also recommended to further investigate the role of chromosome 8 UPD in ASD.
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spelling pubmed-51341302016-12-15 Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder Ahram, Dina F. Stambouli, Danae Syrogianni, Aleksandra Al‐Sarraj, Yasser Gerou, Spyridon El‐Shanti, Hatem Kambouris, Marios Clin Case Rep Case Reports Various chromosomal anomalies including small supernumerary marker chromosome (sSMC) and Uniparental disomy (UPD) have been described in association with intellectual disability and autism spectrum disorder. Based on our reported findings, we recommend that patients with sSMC(8) be evaluated for autism spectrum disorder (ASD) for early institution of therapy. In the presence of an identifiable sSMC, exploration of UPD is also recommended to further investigate the role of chromosome 8 UPD in ASD. John Wiley and Sons Inc. 2016-10-21 /pmc/articles/PMC5134130/ /pubmed/27980747 http://dx.doi.org/10.1002/ccr3.705 Text en © 2016 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 (http://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
Ahram, Dina F.
Stambouli, Danae
Syrogianni, Aleksandra
Al‐Sarraj, Yasser
Gerou, Spyridon
El‐Shanti, Hatem
Kambouris, Marios
Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder
title Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder
title_full Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder
title_fullStr Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder
title_full_unstemmed Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder
title_short Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder
title_sort mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5134130/
https://www.ncbi.nlm.nih.gov/pubmed/27980747
http://dx.doi.org/10.1002/ccr3.705
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