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
(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
(1) prominent forehead with frontal bossing
(2) high-arched eyebrows
(3) cleft lip and/or palate
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