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7q11.23 duplication syndrome (also called … 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 2005n. The syndrome was first reported in 2005
, El síndrome de duplicación 7q11.23 también … El síndrome de duplicación 7q11.23 también conocido como "dup7" es un trastorno genético caracterizado por problemas de comportamiento (tales como un trantorno del espectro autista o la ansiedad social), rasgos físicos característicos (como filtrum corto o cejas derechas), y anormalidades neurológicas. derechas), y anormalidades neurológicas.
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