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Cat’s eye syndrome (Schmid-Frakkaro): a series of atypical clinical cases
R. G. Gamirova,
R. R. Gamirova,
T. Yu. Guseva,
A. A. Protchenko,
L. R. Samoylova,
E. A. Gorobets,
S. Ya. Volgina https://doi.org/10.21508/1027-4065-2025-70-5-84-90
Abstract
Cat eye syndrome is a rare genetic pathology characterized by the presence of an additional small supernumerary marker chromosome formed from copies of a region of chromosome 22, resulting in partial tetrasomy. However, Cat eye syndrome cases with partial or complete trisomy of chromosome 22 are also reported. This article presents descriptions of three atypical clinical cases of the syndrome, one of which is comorbid by epilepsy, and therefore its description is more detailed. The clinical picture of these three cases did not include the classic triad of the syndrome. Current study provides new information on possible variants of the Cat eye syndrome phenotype, including comorbidity with epilepsy, and contributes to the formation of a database that allows for a detailed and comprehensive study of the Cat eye syndrome.
Supporting agencies: The work was supported by the Kazan Federal University Strategic Academic Leadership Program (Volga Region) (PRIORITY-2030).
About the Authors
R. G. Gamirova
Kazan (Volga region) Federal University
Russian Federation
Russian Federation
420008, Kazan
R. R. Gamirova
Millenium Clinic
Russian Federation
Russian Federation
420008, Kazan
T. Yu. Guseva
Kazan (Volga region) Federal University
Russian Federation
Russian Federation
420008, Kazan
A. A. Protchenko
Kazan (Volga region) Federal University
Russian Federation
Russian Federation
420008, Kazan
L. R. Samoylova
Kazan (Volga region) Federal University
Russian Federation
Russian Federation
420008, Kazan
E. A. Gorobets
Kazan (Volga region) Federal University
Russian Federation
Russian Federation
420008, Kazan
S. Ya. Volgina
Kazan State Medical University
Russian Federation
Russian Federation
420012, Kazan
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Review
For citations:
Gamirova R.G., Gamirova R.R., Guseva T.Yu., Protchenko A.A., Samoylova L.R., Gorobets E.A., Volgina S.Ya. Cat’s eye syndrome (Schmid-Frakkaro): a series of atypical clinical cases. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2025;70(5):84-90. (In Russ.) https://doi.org/10.21508/1027-4065-2025-70-5-84-90
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