Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population
Saved in:
| Title: | Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population |
|---|---|
| Language: | English |
| Authors: | Al-Mamari, Watfa, Al-Saegh, Abeer, Al-Kindy, Adila, Bruwer, Zandre, Al-Murshedi, Fathiya, Al-Thihli, Khalid |
| Source: | Journal of Autism and Developmental Disorders. Aug 2015 45(8):2323-2328. |
| Availability: | Springer. 233 Spring Street, New York, NY 10013. Tel: 800-777-4643; Tel: 212-460-1500; Fax: 212-348-4505; e-mail: service-ny@springer.com; Web site: http://www.springerlink.com |
| Peer Reviewed: | Y |
| Page Count: | 6 |
| Publication Date: | 2015 |
| Document Type: | Journal Articles Reports - Research |
| Descriptors: | Autism, Pervasive Developmental Disorders, Children, Genetic Disorders, Genetics, Foreign Countries |
| Geographic Terms: | Oman |
| DOI: | 10.1007/s10803-015-2394-9 |
| ISSN: | 0162-3257 |
| 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. |
| Abstractor: | As Provided |
| Number of References: | 19 |
| Entry Date: | 2015 |
| Accession Number: | EJ1069703 |
| Database: | ERIC |
Be the first to leave a comment!
