A Case Study of Mosaic Trisomy 13 in a 2-year-old Filipino Child
Mosaic trisomy 13 is estimated to occur in 5% of all trisomy 13 cases. Presentation of trisomy 13 mosaicism is highly variable, with cases that may present with a normal phenotype and intellectual function, to cases with grossly abnormal features and profound developmental delays. We present a 2-year-old female with trisomy 13 mosaicism, who presented with small for gestational age (SGA), polydactyly, ventricular septal defect (VSD), and poor oral feeding.
Padilla, C. D., Padilla, P. J. D., Tanchanco, L. B. S., Cruz, M. R. de la, & Salonga, E. G. (2020). A case study of mosaic trisomy 13 in a 2-year-old Filipino child. Acta Medica Philippina, 54(4). https://doi.org/10.47895/amp.v54i4.1936