Systematic Screening for Subtelomeric Anomalies in a Clinical Sample of Autism / Thomas H. WASSINK in Journal of Autism and Developmental Disorders, 37-4 (April 2007)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 37-4 (April 2007) . - p.703-708 Titre : Systematic Screening for Subtelomeric Anomalies in a Clinical Sample of Autism Type de document : Texte imprimé et/ou numérique Auteurs : Thomas H. WASSINK, Auteur ; Molly LOSH, Auteur ; Joseph PIVEN, Auteur ; Val C. SHEFFIELD, Auteur ; Elizabeth ASHLEY, Auteur ; Erik R. WESTIN, Auteur ; Shivanand R. PATIL, Auteur Année de publication : 2007 Article en page(s) : p.703-708 Langues : Anglais (eng) Mots-clés : Autism Chromosomal-anomalies FISH Karyotyping Subtelomere Index. décimale : PER Périodiques Résumé : High-resolution karyotyping detects cytogenetic anomalies in 5–10% of cases of autism. Karyotyping, however, may fail to detect abnormalities of chromosome subtelomeres, which are gene rich regions prone to anomalies. We assessed whether panels of FISH probes targeted for subtelomeres could detect abnormalities beyond those identified by karyotyping in 104 individuals with Pervasive Developmental Disorders (PDDs) drawn from a general clinical population. Four anomalies were detected by karyotyping, while no additional anomalies were detected by subtelomere FISH or by probes targeted for 15q11.2q13 or 22q11.2 in subgroups of our sample. We conclude that while karyotyping may be more broadly indicated for autism than previously supposed, subtelomere FISH appears less likely to be a useful screening tool for unselected PDD populations. En ligne : http://dx.doi.org/10.1007/s10803-006-0196-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=973 [article] Systematic Screening for Subtelomeric Anomalies in a Clinical Sample of Autism [Texte imprimé et/ou numérique] / Thomas H. WASSINK, Auteur ; Molly LOSH, Auteur ; Joseph PIVEN, Auteur ; Val C. SHEFFIELD, Auteur ; Elizabeth ASHLEY, Auteur ; Erik R. WESTIN, Auteur ; Shivanand R. PATIL, Auteur . - 2007 . - p.703-708. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 37-4 (April 2007) . - p.703-708 Mots-clés : Autism Chromosomal-anomalies FISH Karyotyping Subtelomere Index. décimale : PER Périodiques Résumé : High-resolution karyotyping detects cytogenetic anomalies in 5–10% of cases of autism. Karyotyping, however, may fail to detect abnormalities of chromosome subtelomeres, which are gene rich regions prone to anomalies. We assessed whether panels of FISH probes targeted for subtelomeres could detect abnormalities beyond those identified by karyotyping in 104 individuals with Pervasive Developmental Disorders (PDDs) drawn from a general clinical population. Four anomalies were detected by karyotyping, while no additional anomalies were detected by subtelomere FISH or by probes targeted for 15q11.2q13 or 22q11.2 in subgroups of our sample. We conclude that while karyotyping may be more broadly indicated for autism than previously supposed, subtelomere FISH appears less likely to be a useful screening tool for unselected PDD populations. En ligne : http://dx.doi.org/10.1007/s10803-006-0196-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=973

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