[article] 
inJournal of Autism and Developmental Disorders > 42-8 (August 2012) . - p.1582-1591

Titre :	Diagnostic Yield of Chromosomal Microarray Analysis in an Autism Primary Care Practice: Which Guidelines to Implement?
Type de document :	Texte imprimé et/ou numérique
Auteurs :	Susan G. MCGREW, Auteur ; Brittany R. PETERS, Auteur ; Julie CRITTENDON, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur
Année de publication :	2012
Article en page(s) :	p.1582-1591
Langues :	Anglais (eng)
Mots-clés :	Genetic testing guidelines  Chromosomal microarray  Karyotype  Dysmorphology
Index. décimale :	PER Périodiques
Résumé :	Genetic testing is recommended for patients with ASD; however specific recommendations vary by specialty. American Academy of Pediatrics and American Academy of Neurology guidelines recommend G-banded karyotype and Fragile X DNA. The American College of Medical Genetics recommends Chromosomal Microarray Analysis (CMA). We determined the yield of CMA (N = 85), karyotype (N = 119), and fragile X (N = 174) testing in a primary pediatrics autism practice. We found twenty (24%) patients with abnormal CMA results (eight were clinically significant), three abnormal karyotypes and one Fragile X syndrome. There was no relationship between CMA result and cognitive level, seizures, dysmorphology, congenital malformations or behavior. We conclude that CMA should be the clinical standard in all specialties for first tier genetic testing in ASD.
En ligne :	http://dx.doi.org/10.1007/s10803-011-1398-3
Permalink :	https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=178

[article] Diagnostic Yield of Chromosomal Microarray Analysis in an Autism Primary Care Practice: Which Guidelines to Implement? [Texte imprimé et/ou numérique] / Susan G. MCGREW, Auteur ; Brittany R. PETERS, Auteur ; Julie CRITTENDON, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur . - 2012 . - p.1582-1591.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 42-8 (August 2012) . - p.1582-1591

Mots-clés :	Genetic testing guidelines  Chromosomal microarray  Karyotype  Dysmorphology
Index. décimale :	PER Périodiques
Résumé :	Genetic testing is recommended for patients with ASD; however specific recommendations vary by specialty. American Academy of Pediatrics and American Academy of Neurology guidelines recommend G-banded karyotype and Fragile X DNA. The American College of Medical Genetics recommends Chromosomal Microarray Analysis (CMA). We determined the yield of CMA (N = 85), karyotype (N = 119), and fragile X (N = 174) testing in a primary pediatrics autism practice. We found twenty (24%) patients with abnormal CMA results (eight were clinically significant), three abnormal karyotypes and one Fragile X syndrome. There was no relationship between CMA result and cognitive level, seizures, dysmorphology, congenital malformations or behavior. We conclude that CMA should be the clinical standard in all specialties for first tier genetic testing in ASD.
En ligne :	http://dx.doi.org/10.1007/s10803-011-1398-3
Permalink :	https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=178