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

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