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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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Bibliographische Detailangaben
Veröffentlicht in:Clin Case Rep
Hauptverfasser: Ahram, Dina F., Stambouli, Danae, Syrogianni, Aleksandra, Al‐Sarraj, Yasser, Gerou, Spyridon, El‐Shanti, Hatem, Kambouris, Marios
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2016
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5134130/
https://ncbi.nlm.nih.gov/pubmed/27980747
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.705
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