Mosaic cat eye syndrome in a child with unilateral iris coloboma.
Cristina Hernández-MedranoAlberto Hidalgo-BravoCristina Villanueva-MendozaTeresa Bautista-TiradoDavid Apam-GarduñoPublished in: Ophthalmic genetics (2020)
This patient presented two of the three classic manifestations of CES; interestingly, they were unilateral. The 22q11 duplication was identified by standard karyotype and confirmed with FISH. The present case demonstrates the importance of conducting a multidisciplinary approach in patients with congenital malformations associated with known syndromes.