Centre d'Information et de documentation du CRA Rhône-Alpes
CRA
Informations pratiques
-
Adresse
Centre d'information et de documentation
du CRA Rhône-Alpes
Centre Hospitalier le Vinatier
bât 211
95, Bd Pinel
69678 Bron CedexHoraires
Lundi au Vendredi
9h00-12h00 13h30-16h00Contact
Tél: +33(0)4 37 91 54 65
Mail
Fax: +33(0)4 37 91 54 37
-
Résultat de la recherche
1 recherche sur le mot-clé 'Autism Chromosomal-anomalies FISH Karyotyping Subtelomere'
Affiner la recherche Générer le flux rss de la recherche
Partager le résultat de cette recherche Faire une suggestion
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)
[article]
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
in Journal of Autism and Developmental Disorders > 37-4 (April 2007) . - p.703-708[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