[article]
| Titre : |
Developmental psychopathology: The role of structural variation in the genome |
| Type de document : |
Texte imprimé et/ou numérique |
| Auteurs : |
Michael GILL, Auteur |
| Année de publication : |
2012 |
| Article en page(s) : |
p.1319-1334 |
| Langues : |
Anglais (eng) |
| Index. décimale : |
PER Périodiques |
| Résumé : |
A wide range of developmental disorders present with characteristic psychopathologies and behaviors, with diagnoses including, inter alia, cognitive disorders and learning disabilities, epilepsies, autism, and schizophrenia. Each, to varying extent, has a genetic component to etiology and is associated with cytogenetic abnormalities. Technological developments, particularly array-based comparative genome hybridization and single nucleotide polymorphism chips, has revealed a wide range of rare recurrent and de novo copy number variants (CNVs) to be associated with disorder and psychopathology. It is surprising that many apparently similar CNVs are identified across two or more disorders hitherto considered unrelated. This article describes the characteristics of CNVs and current technological restrictions that make accurately identifying small events difficult. It summarizes the latest discoveries for individual diagnostic categories and considers the implications for a shared neurobiology. It examines likely developments in the knowledge base as well as addressing the clinical implications going forward. |
| En ligne : |
http://dx.doi.org/10.1017/S0954579412000739 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=182 |
in Development and Psychopathology > 24-4 (November 2012) . - p.1319-1334
[article] Developmental psychopathology: The role of structural variation in the genome [Texte imprimé et/ou numérique] / Michael GILL, Auteur . - 2012 . - p.1319-1334. Langues : Anglais ( eng) in Development and Psychopathology > 24-4 (November 2012) . - p.1319-1334
| Index. décimale : |
PER Périodiques |
| Résumé : |
A wide range of developmental disorders present with characteristic psychopathologies and behaviors, with diagnoses including, inter alia, cognitive disorders and learning disabilities, epilepsies, autism, and schizophrenia. Each, to varying extent, has a genetic component to etiology and is associated with cytogenetic abnormalities. Technological developments, particularly array-based comparative genome hybridization and single nucleotide polymorphism chips, has revealed a wide range of rare recurrent and de novo copy number variants (CNVs) to be associated with disorder and psychopathology. It is surprising that many apparently similar CNVs are identified across two or more disorders hitherto considered unrelated. This article describes the characteristics of CNVs and current technological restrictions that make accurately identifying small events difficult. It summarizes the latest discoveries for individual diagnostic categories and considers the implications for a shared neurobiology. It examines likely developments in the knowledge base as well as addressing the clinical implications going forward. |
| En ligne : |
http://dx.doi.org/10.1017/S0954579412000739 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=182 |
|  |
Developmental psychopathology: The role of structural variation in the genome in Development and Psychopathology, 24-4 (November 2012)
