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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DEFINITION OF AUTISM
Clinical features that predict an increased likelihood of finding a cytogenetic abnormality on routine testing include: congenital delay in neuro-cognitive development, one or more major malformations, prenatal onset abnormal growth pattern, craniofacial dysmorphism, unusual behavioral phenotypes, often in the autistic spectrum, and a family history of multiple miscarriages, learning disabilities or malformations. High resolution chromosome banding has been reported to have an overall detection rate of 7.5% for anomalies in patients with mental retarda tion/learning disabilities [1]. Conventional cytogenetic analysis uses light microscopy to examine metaphase or prometaphase chromosomes that have been stained to produce a distinct banding pattern for each chromosome. This approach has a maximum resolution of 3-5 Mb for structural anomalies and requires mitotic cells, usually peripheral blood leucocytes, bone marrow, or fibroblasts, for analysis [2,3]. Fluorescent in situ hybridization (FISH) analysis uses labeled DNA probes to identify submicroscopic (or cryptic) structural chromosome anomalies: micro deletions and micro duplications [4]. Microarray-based comparative genomic hybridization (array-CGH) technology provides a diagnostic method for systematic and comprehensive analysis of human aneuploidy. Array-CGH provides much higher resolution (currently up to 100-200 kb) and has great potential for automation. Array-CGH is now being applied to human malformation syndromes and cohorts with learning disabilities, provides higher resolution definition of known structural aberrations and detects aneuploidy that was undetected by FISH or chromosome banding techniques.
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