Fahad Naeem, MBBS; Sohaib Sajid Zaheer, MBBS; Khawaja Uzair, MBBS; Mohsina Ibrahim, MBBS
WMJ. 2024;123(5):390-393.
ABSTRACT
Chromosomal trisomy presents with a range of clinical manifestations, from subtle to life-threatening conditions that include trisomy 16, the most common aneuploidy in first trimester abortions. Most cases are linked to maternal complications and spontaneous abortions, typically detected prenatally. Infants who survive with trisomy 16 often have mosaic variants and may exhibit various anatomical and metabolic abnormalities, though a trisomy 16 diagnosis does not guarantee the presence of such abnormalities. We share the case of a 15-year-old boy who has mosaic trisomy 16. He was diagnosed after birth and showed mild symptoms without any major anatomical issues. However, he did experience several metabolic problems, such as insulin resistance, obesity, hormonal imbalances, and vitamin D deficiency. This report highlights the diverse clinical characteristics of trisomy 16, comparing them to previously reported cases.