A Martínez-Hernández, D Martínez-Anaya, C Durán-McKinster, V Del Castillo-Ruiz, P Navarrete-Meneses, E J Córdova, B E Villegas-Torres, A Ruiz-Herrera, R Juárez-Velázquez, E Yokoyama-Rebollar, D Cervantes-Barragán, A Pedraza-Meléndez, L Orozco, P Pérez-Vera, C Salas-Labadía
BACKGROUND: To date, only twenty-one cases diagnosed postnatally with mosaic trisomy 12 have been reported. The most frequent phenotypic manifestations are developmental delay, dysmorphic facial features, congenital heart defects, digital alterations, and pigmentary disorders. In the present report, detailed clinical and genetic profiles of three unrelated new patients with mosaic trisomy 12 are described and compared with previously reported cases. CASE PRESENTATION: In the present report, we include the clinical, cytogenetic, and molecular description of three Mexican patients diagnosed postnatally with mosaic trisomy 12...
October 31, 2022: BMC Medical Genomics