# Intussusception in Mosaic Trisomy 14

## TL;DR

A rare case of intussusception in an adult with mosaic trisomy 14 is reported, highlighting unusual medical complications in this condition.

## Contribution

This case report adds to the limited understanding of complications in adult patients with mosaic trisomy 14.

## Key findings

- An adult with mosaic trisomy 14 presented with intussusception and chronic constipation.
- The patient's symptoms were successfully managed with conservative treatment.
- This case expands knowledge on the medical challenges faced by individuals with mosaic trisomy 14.

## Abstract

Mosaic trisomy 14 is exceptionally rare and was first described in the 1970s with fewer than 100 known liveborn individuals. Information about complications and the natural history of the disease is rare, especially in adult patients. This case illustrates an adult patient with severe functional limitations from mosaic trisomy 14 who presented with abdominal pain and failure to thrive and was subsequently found to have intussusception and severe chronic constipation, which was successfully treated conservatively.