Trisomy 12p

What is Trisomy 12p?

A partial autosomal trisomy characterized by developmental delay and intellectual disability, generalized hypotonia, postnatal growth retardation, variable brain and heart anomalies and dysmorphic features, including frontal bossing, round face, full cheeks, low-set ears, broad nasal bridge, short nose with anteverted nares, long philtrum, thin upper lip vermilion, and everted, thick lower lip. Unspecific associated congenital anomalies have also been reported.

Other condition names

  • Duplication 12p

Inheritance type

Not applicable, Unknown


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Neonatal
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