The 8p23.1 Duplication Syndrome is associated with a number of clinical findings. It is considered a pathogenic copy number variation (pCNV).
Patient selection: duplication at 8p23.1
Clinical features:
(1) mild developmental delay and learning difficulties
(2) behavioral problems
(3) variable seizures
(4) variable hypotonia
(5) cardiac malformations (tetralogy of Fallot, other)
(6) syndactyly of toes
Dysmorphic features:
(1) prominent forehead with frontal bossing
(2) high-arched eyebrows
(3) cleft lip and/or palate
(4) macrocephaly
