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

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