A case study of Mosaic Trisomy 13 in a 2-year-old Filipino child
Acta Medica Philippina
;
: 435-441, 2020.
Artigo
em Inglês
| WPRIM
| ID: wpr-980048
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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Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Síndrome da Trissomia do Cromossomo 13
/
Aconselhamento Genético
Idioma:
Inglês
Revista:
Acta Medica Philippina
Ano de publicação:
2020
Tipo de documento:
Artigo
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