title: Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population.
abstract: Autism Spectrum Disorders are a complicated group of disorders characterized with heterogeneous genetic etiologies. The genetic investigations for this group of disorders have expanded considerably over the past decade. In our study we designed a tired approach and studied the diagnostic yield of chromosomal microarray analysis on patients referred to the Genetic and Developmental Medicine clinic in Sultan Qaboos University in Oman for autism spectrum disorders in a highly consanguineous population. Copy number variants were seen in 27% of our studied cohort of patients and it was strongly associated with dysmorphic features and congenital anomalies.
authors.affiliation: Genetics Department, College of Medicine, Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, PO Box 35, 123, Muscat, Sultanate of Oman.
authors.forename: Watfa
authors.initials: W
authors.lastname: Al-Mamari
authors.forename: Abeer
authors.initials: A
authors.lastname: Al-Saegh
authors.forename: Adila
authors.initials: A
authors.lastname: Al-Kindy
authors.forename: Zandre
authors.initials: Z
authors.lastname: Bruwer
authors.forename: Fathiya
authors.initials: F
authors.lastname: Al-Murshedi
authors.forename: Khalid
authors.initials: K
authors.lastname: Al-Thihli
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D000293:Adolescent; D000067877:Autism Spectrum Disorder / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D015897:Comorbidity; D003241:Consanguinity; D003430:Cross-Sectional Studies; D056915:DNA Copy Number Variations; D002658:Developmental Disabilities / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020411:Oligonucleotide Array Sequence Analysis; D009850:Oman