title: Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder.
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.
authors.affiliation: Medical Genetics Center Qatar Biomedical Research Institute Hamad Bin Khalifa University Doha Qatar.
authors.forename: Dina F
authors.initials: DF
authors.lastname: Ahram
authors.affiliation: Cytogenomic Medical Laboratory Bucharest Romania.
authors.forename: Danae
authors.initials: D
authors.lastname: Stambouli
authors.affiliation: Nursing Division Pediatric Hospital of Athens "Agia Sofia" Athens Greece.
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Syrogianni
authors.affiliation: Medical Genetics Center Qatar Biomedical Research Institute Hamad Bin Khalifa University Doha Qatar.
authors.forename: Yasser
authors.initials: Y
authors.lastname: Al-Sarraj
authors.affiliation: Analysis Medical Laboratories Thessaloniki Greece.
authors.forename: Spyridon
authors.initials: S
authors.lastname: Gerou
authors.affiliation: Medical Genetics CenterQatar Biomedical Research InstituteHamad Bin Khalifa UniversityDohaQatar; PediatricsUniversity of Jordan School of MedicineAmmanJordan; PediatricsUniversity of IowaIowa CityIowaUSA.
authors.forename: Hatem
authors.initials: H
authors.lastname: El-Shanti
authors.affiliation: Pathology-GeneticsSidra Medical and Research CenterDohaQatar; GeneticsYale University School of MedicineNew HavenConnecticutUSA.
authors.forename: Marios
authors.initials: M
authors.lastname: Kambouris
keywords: Autism; clinical genetics; copy number variation; intellectual disability; uniparental disomy