AI Article Synopsis
- Chromosomal trisomy, like trisomy 16, can lead to a range of health issues, from mild symptoms to serious conditions, often detected during pregnancy.
- Many cases of trisomy 16 result in miscarriages, with surviving infants possibly having mosaic forms that can show various abnormalities, although not all affected individuals will present these issues.
- The case of a 15-year-old boy with mosaic trisomy 16 illustrates mild symptoms and metabolic issues such as insulin resistance and obesity, emphasizing the variability in clinical presentations associated with this condition.
Article 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.
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