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

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.




Number 26
Number 26 VOL. 26(2), 2023 All in one
Number 26
VOL. 26(2), 2023
Number 26
VOL. 26, 2023 Supplement
Number 26
VOL. 26(1), 2023
Number 25
VOL. 25(2), 2022
Number 25
VOL. 25 (1), 2022
Number 24
VOL. 24(2), 2021
Number 24
VOL. 24(1), 2021
Number 23
VOL. 23(2), 2020
Number 22
VOL. 22(2), 2019
Number 22
VOL. 22(1), 2019
Number 22
VOL. 22, 2019 Supplement
Number 21
VOL. 21(2), 2018
Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006