Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population / Watfa AL-MAMARI in Journal of Autism and Developmental Disorders, 45-8 (August 2015)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 45-8 (August 2015) . - p.2323-2328 Titre : Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population Type de document : Texte imprimé et/ou numérique Auteurs : Watfa AL-MAMARI, Auteur ; Abeer AL-SAEGH, Auteur ; Adila AL-KINDY, Auteur ; Zandre BRUWER, Auteur ; Fathiya AL-MURSHEDI, Auteur ; Khalid AL-THIHLI, Auteur Année de publication : 2015 Article en page(s) : p.2323-2328 Langues : Anglais (eng) Mots-clés : Autism  Autism spectrum disorders  Chromosomal microarray  Array-CGH  Diagnostic yield  Consanguinity Index. décimale : PER Périodiques Résumé : Autism Spectrum Disorders are a complicated group of disorders characterized with heterogeneous genetic etiologies. The genetic investigations for this group of disorders have expanded considerably over the past decade. In our study we designed a tired approach and studied the diagnostic yield of chromosomal microarray analysis on patients referred to the Genetic and Developmental Medicine clinic in Sultan Qaboos University in Oman for autism spectrum disorders in a highly consanguineous population. Copy number variants were seen in 27 % of our studied cohort of patients and it was strongly associated with dysmorphic features and congenital anomalies. En ligne : http://dx.doi.org/10.1007/s10803-015-2394-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=263 [article] Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population [Texte imprimé et/ou numérique] / Watfa AL-MAMARI, Auteur ; Abeer AL-SAEGH, Auteur ; Adila AL-KINDY, Auteur ; Zandre BRUWER, Auteur ; Fathiya AL-MURSHEDI, Auteur ; Khalid AL-THIHLI, Auteur . - 2015 . - p.2323-2328. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 45-8 (August 2015) . - p.2323-2328 Mots-clés : Autism  Autism spectrum disorders  Chromosomal microarray  Array-CGH  Diagnostic yield  Consanguinity Index. décimale : PER Périodiques Résumé : Autism Spectrum Disorders are a complicated group of disorders characterized with heterogeneous genetic etiologies. The genetic investigations for this group of disorders have expanded considerably over the past decade. In our study we designed a tired approach and studied the diagnostic yield of chromosomal microarray analysis on patients referred to the Genetic and Developmental Medicine clinic in Sultan Qaboos University in Oman for autism spectrum disorders in a highly consanguineous population. Copy number variants were seen in 27 % of our studied cohort of patients and it was strongly associated with dysmorphic features and congenital anomalies. En ligne : http://dx.doi.org/10.1007/s10803-015-2394-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=263

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