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-yea...
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Archīum Ateneo
2020
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ph-ateneo-arc.asmph-pubs-10892022-06-20T09:30:49Z A Case Study of Mosaic Trisomy 13 in a 2-year-old Filipino Child Padilla, Carmencita D Padilla, Patrick Jose D Tanchanco, Lourdes S de la Cruz, Myrian R Salonga, Edsel G 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. 2020-08-27T07:00:00Z text https://archium.ateneo.edu/asmph-pubs/89 https://actamedicaphilippina.upm.edu.ph/index.php/acta/article/view/1936 Ateneo School of Medicine and Public Health Faculty Publications Archīum Ateneo trisomy 13 mosaic trisomy 13 genetic counseling SNP array Maternal and Child Health Public Health |
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Philippines Philippines |
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trisomy 13 mosaic trisomy 13 genetic counseling SNP array Maternal and Child Health Public Health |
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trisomy 13 mosaic trisomy 13 genetic counseling SNP array Maternal and Child Health Public Health Padilla, Carmencita D Padilla, Patrick Jose D Tanchanco, Lourdes S de la Cruz, Myrian R Salonga, Edsel G A Case Study of Mosaic Trisomy 13 in a 2-year-old Filipino Child |
| description |
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. |
| format |
text |
| author |
Padilla, Carmencita D Padilla, Patrick Jose D Tanchanco, Lourdes S de la Cruz, Myrian R Salonga, Edsel G |
| author_facet |
Padilla, Carmencita D Padilla, Patrick Jose D Tanchanco, Lourdes S de la Cruz, Myrian R Salonga, Edsel G |
| author_sort |
Padilla, Carmencita D |
| title |
A Case Study of Mosaic Trisomy 13 in a 2-year-old Filipino Child |
| title_short |
A Case Study of Mosaic Trisomy 13 in a 2-year-old Filipino Child |
| title_full |
A Case Study of Mosaic Trisomy 13 in a 2-year-old Filipino Child |
| title_fullStr |
A Case Study of Mosaic Trisomy 13 in a 2-year-old Filipino Child |
| title_full_unstemmed |
A Case Study of Mosaic Trisomy 13 in a 2-year-old Filipino Child |
| title_sort |
case study of mosaic trisomy 13 in a 2-year-old filipino child |
| publisher |
Archīum Ateneo |
| publishDate |
2020 |
| url |
https://archium.ateneo.edu/asmph-pubs/89 https://actamedicaphilippina.upm.edu.ph/index.php/acta/article/view/1936 |
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