A Case Study of Mosaic Trisomy 13 in a 2-year-old Filipino Child

  • Carmencita D. Padilla
  • Patrick Jose D. Padilla
  • Lourdes Bernadette S. Tanchanco
  • Myrian R. de la Cruz
  • Edsel G. Salonga
Keywords: trisomy 13, mosaic trisomy 13, genetic counseling, SNP array

Abstract

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.

Published
2020-08-27
How to Cite
1.
Padilla CD, Padilla PJD, Tanchanco LBS, de la Cruz MR, Salonga EG. A Case Study of Mosaic Trisomy 13 in a 2-year-old Filipino Child. Acta Med Philipp [Internet]. 2020Aug.27 [cited 2024Mar.29];54(4). Available from: https://actamedicaphilippina.upm.edu.ph/index.php/acta/article/view/1936

Most read articles by the same author(s)

<< < 1 2 3 > >>