Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder
journal contribution
submitted on 2024-09-26, 10:13 and posted on 2024-09-26, 10:13 authored by Dina F. Ahram, Danae Stambouli, Aleksandra Syrogianni, Yasser Al‐Sarraj, Spyridon Gerou, Hatem El‐Shanti, Marios KambourisVarious 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.
Other Information
Published in: Clinical Case Reports
License: http://creativecommons.org/licenses/by-nc/4.0/
See article on publisher's website: https://dx.doi.org/10.1002/ccr3.705
Funding
Qatar National Research Fund (NPRP 6-359-3-095), Gene identification in autosomal recessive familial epilepsy.
History
Language
- English
Publisher
WileyPublication Year
- 2016
License statement
This Item is licensed under the Creative Commons Attribution-NonCommercial 4.0 International LicenseInstitution affiliated with
- Hamad Bin Khalifa University
- Qatar Biomedical Research Institute - HBKU
- Sidra Medical and Research Center (2015-2017)
