Jakub Trizuljak, Jakub Duben, Ivona Blaháková, Zuzana Vrzalová, Kateřina Staňo Kozubík, Jiří Štika, Lenka Radová, Veronika Bergerová, Soňa Mejstříková, Věra Hořínová, Radim Jančálek, Šárka Pospíšilová, Michael Doubek
INTRODUCTION: In contrast with the well-known and described deletion of the 22q11 chromosome region responsible for DiGeorge syndrome, 22q12 deletions are much rarer. Only a few dozen cases have been reported so far. This region contains genes responsible for cell cycle control, chromatin modification, transmembrane signaling, cell adhesion, and neural development, as well as several cancer predisposition genes. CASE PRESENTATION: We present a patient with cleft palate, sensorineural hearing loss, vestibular dysfunction, epilepsy, mild to moderate intellectual disability, divergent strabism, pes equinovarus, platyspondylia, and bilateral schwannoma...
October 2023: Molecular Syndromology