7q11.23 duplication syndrome

rdf:langString 7q11.23 duplication syndrome

rdf:langString 7q11.23 duplication syndrome

rdf:langString dup7

rdf:langString 7q11.23 duplication syndrome (also called dup7 or Duplication of the Williams-Beuren Syndrome Critical Region) is a rare genetic syndrome caused by of 1.5-1.8 mega base in section q11.23 of chromosome 7. This syndrome is characterized by a wide spectrum of neurological, behavior and other medical problems which may appear in different levels of severity. Common characteristics are (CAS - childhood apraxia of speech, dysarthria), , delayed motor development and clumsiness, anxiety (especially on social conditions), selective mutism (in 20% of the subjects), ADHD, oppositional disorder, ASD (in 20%), intellectual disability in 18%, cardio-vascular disease (dilation of the ascending aorta in 46%), seizures in 19%, neurological abnormalities (hypotonia, ). hydrocephalus in 5.6%, chronic constipation. The syndrome was first reported in 2005