Trisomy 8 Mosaicism in Two Filipino Children
DOI:
https://doi.org/10.47895/amp.v42i2.2428Keywords:
trisomy 8 mosaicism
deep palmar and plantar creases
skeletal abnormalities
hematologic malignancy
Abstract
We describe two Filipino patients with Trisomy 8 mosaicism syndrome. Both had global developmental delay, mental deficiency, facial dysmorphism, skeletal deformities and the characteristic deep plantar and palmar creases. Their phenotype and radiologic features were consistent with the previously reported cases. Hematologic malignancies have recently been found to be associated with this chromosomal abnormality, emphasizing the importance of monitoring for cancer risks.