Duplication of 3q29 is a rare disorder with a number of phenotypic features.
Some cases are familial and some arise de novo. A carrier may be phenotypically normal or minimally affected.
Initial clinical presentation is often during infancy with:
(1) feeding problems
(2) failure to gain weight
(3) hypotonia
(4) respiratory distress
Clinical problems may include:
(1) learning problems and intellectual disability
(2) seizures
(3) autism-spectrum disorder
(4) cardiac anomalies
(5) ocular anomalies
(6) microcephaly
(7) dental anomalies
