A case study of Mosaic Trisomy 13 in a 2-year-old Filipino child
Acta Medica Philippina
; : 435-441, 2020.
Article
de En
| WPRIM
| ID: wpr-980048
Bibliothèque responsable:
WPRO
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.
Mots clés
Recherche sur Google
Indice:
WPRIM
Sujet Principal:
Syndrome de Patau
/
Conseil génétique
langue:
En
Texte intégral:
Acta Medica Philippina
Année:
2020
Type:
Article