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Auteur Brittany R. PETERS |
Documents disponibles écrits par cet auteur (1)
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Diagnostic Yield of Chromosomal Microarray Analysis in an Autism Primary Care Practice: Which Guidelines to Implement? / Susan G. MCGREW in Journal of Autism and Developmental Disorders, 42-8 (August 2012)
[article]
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
in Journal of Autism and Developmental Disorders > 42-8 (August 2012) . - p.1582-1591[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