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

• Published in: BMC Medical Genomics 2022, Vol.15 (1)
• Main Authors: Martínez-Hernández, A, Martínez-Anaya, D, Durán-McKinster, C, Del Castillo-Ruiz, V, Navarrete-Meneses, P, Córdova, E. J, Villegas-Torres, B. E, Ruiz-Herrera, A, Juárez-Velázquez, R, Yokoyama-Rebollar, E, Cervantes-Barragán, D, Pedraza-Meléndez, A, Orozco, L, Pérez-Vera, P, Salas-Labadía, C
• Format: Report
• Language: English
• Subjects: Development and progression; Diagnosis; Mosaicism
• ISSN: 1755-8794; 1755-8794
• DOI: 10.1186/s12920-022-01382-x

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. The detailed clinical, cytogenetic, and molecular description of these three new patients, contributes with relevant information to delineate more accurately a group of patients that show a heterogeneous phenotype, although sharing the same chromosomal alteration. The possibility of detecting mosaic trisomy 12 is directly associated with the sensitivity of the methodology applied to reveal the low-level chromosomal mosaicism, as well as with the possibility to perform the analysis in a suitable tissue.