GENETIC AND NON GENETIC ASPECTS OF
AUTISM SPECTRUM DISORDERS Avdjieva-Tzavella D *Corresponding Author: Daniela Avdjieva-Tzavella, Department of Clinical Genetics, University
Pediatrics Hospital, 11 Ivan Geshov str., Sofia 1660, Bulgaria; Tel: +359-2-952-3840; Fax:
+359-2-875-0052; E-mail: davdjieva@ yahoo.com page: 3
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Abstract
Chromosome abnormalities have long been recognized as an important cause of learning disabilities and multiple malformation syndromes. About 0.8% of live born infants have numerical or structural chromosomal anomalies that result in an abnormal phenotype. Identification of such anomalies is important clinically and also for accurate genetic counseling. Recently, molecular cytogenetic and array-based techniques have enabled higher resolution screens for chromosome anomalies. This brief review of the etiology of autism spectrum disorders (ASD) focuses on the heritable and non heritable risk factors that underlie this major neuro-developmental disorder. Since all patients with a chromosomal imbalance are dysmorphic, the association of ASD with a facial dysmorphism seems to be a good indication for chromosomal anomaly screening. Key words: Array CGH (microarray-based comparative genomic hybridization); Attention-deficit/ hyperac tivity disorder (ADHD); Autism spectrum disorders (ASD)
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