A case study of Mosaic Trisomy 13 in a 2-year-old Filipino child
https://doi.org/10.47895/amp.v54i4.1936
- Author:
Carmencita D. Padilla
1
,
2
;
Patrick Jose D. Padilla
3
;
Lourdes Bernadette S. Tanchanco
4
;
Myrian R. de la Cruz
2
;
Edsel G. Salonga
2
Author Information
1. Department of Pediatrics, College of Medicine and Philippine General Hospital, University of the Philippines Manila
2. Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila
3. Department of Obstetrics and Gynecology, College of Medicine and Philippine General Hospital, University of the Philippines Manila
4. Ateneo School of Medicine and Public Health
- Publication Type:Case Reports
- Keywords:
Mosaic trisomy 13
- MeSH:
Trisomy 13 Syndrome;
Genetic Counseling
- From:
Acta Medica Philippina
2020;54(4):435-441
- CountryPhilippines
- Language:English
-
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.
- Full text:1936-Article Text-9580-1-10-20200827.pdf
