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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Detalles Bibliográficos
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

Internet

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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