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

doi:10.47895/amp.v54i4.1936

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

Authors

Carmencita D. Padilla
Patrick Jose D. Padilla
Lourdes Bernadette S. Tanchanco
Myrian R. de la Cruz
Edsel G. Salonga

DOI:

https://doi.org/10.47895/amp.v54i4.1936

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.

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Published

08/27/2020

Issue

Vol. 54 No. 4 (2020): Genetics Issue 6

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Articles

How to Cite

A Case Study of Mosaic Trisomy 13 in a 2-year-old Filipino Child. Acta Med Philipp [Internet]. 2020 Aug. 27 [cited 2025 Oct. 4];54(4). Available from: https://luna.upm.edu.ph/index.php/acta/article/view/1936

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

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