Phelan-McDermid Syndrome: Clinical Aspects / Katy PHELAN  

Public ISBD in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA Titre : Phelan-McDermid Syndrome: Clinical Aspects Type de document : Texte imprimé et/ou numérique Auteurs : Katy PHELAN, Auteur ; Luigi BOCCUTO, Auteur ; Sara SARASUA, Auteur Année de publication : 2016 Importance : p.347-364 Langues : Anglais (eng) Mots-clés : 22q13 deletion  Absent speech  Autism  Dysplastic toenails  Hypotonia  Intellectual impairment  Phelan–McDermid  SHANK3  Speech delay Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Phelan–McDermid syndrome (PMS), also known as the 22q13 deletion syndrome, is a genetic condition characterized by neonatal hypotonia, developmental delay, absent or impaired speech, and minor dysmorphic features. PMS typically results from a deletion of the distal long arm of chromosome 22, with the size of the deleted segment ranging from less than 100 kb to greater than 9 MB. The loss of 22q13 may result from a terminal deletion, an interstitial deletion, an unbalanced translocation, formation of a ring chromosome, or other types of structural chromosome aberrations. In most cases, the deletion results in haploinsufficiency for the SHANK3 gene which codes for a scaffolding protein in the postsynaptic density of excitatory neurons. Mutation or disruption of the SHANK3 gene may also result in PMS. The diagnosis of PMS relies on laboratory confirmation by molecular cytogenetic or molecular genetic methods. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00021-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA Phelan-McDermid Syndrome: Clinical Aspects [Texte imprimé et/ou numérique] / Katy PHELAN, Auteur ; Luigi BOCCUTO, Auteur ; Sara SARASUA, Auteur . - 2016 . - p.347-364. Langues : Anglais (eng) Mots-clés : 22q13 deletion  Absent speech  Autism  Dysplastic toenails  Hypotonia  Intellectual impairment  Phelan–McDermid  SHANK3  Speech delay Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Phelan–McDermid syndrome (PMS), also known as the 22q13 deletion syndrome, is a genetic condition characterized by neonatal hypotonia, developmental delay, absent or impaired speech, and minor dysmorphic features. PMS typically results from a deletion of the distal long arm of chromosome 22, with the size of the deleted segment ranging from less than 100 kb to greater than 9 MB. The loss of 22q13 may result from a terminal deletion, an interstitial deletion, an unbalanced translocation, formation of a ring chromosome, or other types of structural chromosome aberrations. In most cases, the deletion results in haploinsufficiency for the SHANK3 gene which codes for a scaffolding protein in the postsynaptic density of excitatory neurons. Mutation or disruption of the SHANK3 gene may also result in PMS. The diagnosis of PMS relies on laboratory confirmation by molecular cytogenetic or molecular genetic methods. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00021-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301

Exemplaires

Code-barres	Cote	Support	Localisation	Section	Disponibilité
aucun exemplaire

---

1 (1 - 1 / 1)