Ontology highlight
ABSTRACT:
SUBMITTER: Gu W
PROVIDER: S-EPMC2920183 | biostudies-literature | 2008
REPOSITORIES: biostudies-literature
Cytogenetic and genome research 20080101 1-4
Several new genomic disorders caused by copy number variation (CNV) of genes whose dosage is critical for the physiological function of the nervous system have been recently identified. Dup(7)(q11.23) patients carry duplications of the genomic region deleted in Williams-Beuren syndrome, they are characterized by prominent speech delay. The phenotypes of Potocki-Lupski syndrome and MECP2 duplication syndrome were neuropsychologically examined in detail, which revealed autism as an endophenotype a ...[more]