Trisomy 8 mosaicism (Warkany syndrome) is a rare viable condition with variable phenotypes,
ranging from mild dysmorphic features to severe malformations. Karyotyping and fluorescence
in-situ hybridization potentially help detecting this low mosaic clone to confirm
the diagnosis of patients with classical and unusual clinical presentations. This
report reviews few previous cases to describe our case - a boy who had trisomy 8 mosaicism
with severe dysmorphic features, born to a consanguineous Arabic couple. This study
concludes that careful cytogenetic diagnoses of trisomy 8 mosaicism is essential for
appropriate management and follow up of this rare disorder.
Keywords
Dysmorphic features - FISH - trisomy 8 mosaicism - Warkany syndrome
