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.
Keywords: Trisomy 14; abdominal pain; constipation; intussusception.
© 2024 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of The American College of Gastroenterology.