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

• Main Authors: Padilla, Carmencita D, Padilla, Patrick Jose D, Tanchanco, Lourdes S, de la Cruz, Myrian R, Salonga, Edsel G
• 格式: text
• 出版: Archīum Ateneo 2020
• 主題: trisomy 13; mosaic trisomy 13; genetic counseling; SNP array; Maternal and Child Health; Public Health
• 在線閱讀: https://archium.ateneo.edu/asmph-pubs/89; https://actamedicaphilippina.upm.edu.ph/index.php/acta/article/view/1936
• 機構: Ateneo De Manila University

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...