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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5134130PMC
http://dx.doi.org/10.1002/ccr3.705DOI Listing

Publication Analysis

Top Keywords

autism spectrum
12
spectrum disorder
12
uniparental disomy
8
mosaic partial
4
partial pericentromeric
4
pericentromeric trisomy
4
trisomy maternal
4
maternal uniparental
4
disomy male
4
male patient
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!