Pigmentary mosaicism as a recurrent clinical manifestation in three new patients with mosaic trisomy 12 diagnosed postnatally: cases report and literature review

• Main Authors: A. Martínez-Hernández (Author), D. Martínez-Anaya (Author), C. Durán-McKinster (Author), V. Del Castillo-Ruiz (Author), P. Navarrete-Meneses (Author), E. J. Córdova (Author), B. E. Villegas-Torres (Author), A. Ruiz-Herrera (Author), R. Juárez-Velázquez (Author), E. Yokoyama-Rebollar (Author), D. Cervantes-Barragán (Author), A. Pedraza-Meléndez (Author), L. Orozco (Author), P. Pérez-Vera (Author), C. Salas-Labadía (Author)
• Format: Book
• Published: BMC, 2022-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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...