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

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