Trisomy 8q

What is Trisomy 8q?

A partial autosomal trisomy characterized by developmental delay, intellectual disability, prenatal and postnatal growth retardation, congenital heart, genitourinary and skeletal anomalies, and dysmorphic facial features, including high and broad forehead, hypertelorism, upslanting palpebral fissures, broad nose, dysplastic and low set ears, micrognathia. Phenotypic features vary in relation to the duplication size.

Other condition names

  • Duplication 8q

Inheritance type



  • Worldwide: <1 in 1,000 000

Age of Onset

  • Neonatal
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