Journal article
Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder
Clinical case reports, Vol.4(12), pp.1125-1131
10/21/2016
DOI: 10.1002/ccr3.705
PMCID: PMC5134130
PMID: 27980747
Abstract
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.
Details
- Title: Subtitle
- Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder
- Creators
- Dina F. Ahram - Hamad bin Khalifa UniversityDanae Stambouli - Cytogenomic Medical LaboratoryAleksandra Syrogianni - Pediatric Hospital of Athens “Agia Sofia”Yasser Al‐Sarraj - Hamad bin Khalifa UniversitySpyridon Gerou - Analysis Medical LaboratoriesHatem El‐Shanti - Hamad Bin Khalifa University University of Jordan School of Medicine University of IowaMarios Kambouris - Yale University
- Resource Type
- Journal article
- Publication Details
- Clinical case reports, Vol.4(12), pp.1125-1131
- DOI
- 10.1002/ccr3.705
- PMID
- 27980747
- PMCID
- PMC5134130
- NLM abbreviation
- Clin Case Rep
- ISSN
- 2050-0904
- eISSN
- 2050-0904
- Publisher
- John Wiley and Sons Inc
- Grant note
- Shafallah Foundation Center NPRP 6‐359‐3‐095 / Qatar National Research Fund (QNRF)
- Alternative title
- D. F. Ahram et al
- Language
- English
- Date published
- 10/21/2016
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984354403902771
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