Skvarce Jeremy, Chatterjee Arjun, Velez Giselle, Gurajala Ram, Schwartz Jeffrey, Braga-Neto Manuel B
Department of Internal Medicine, Cleveland Clinic Foundation, Cleveland, OH.
Department of Hospital Medicine, Cleveland Clinic Foundation, Cleveland, OH.
ACG Case Rep J. 2024 Mar 4;11(3):e01296. doi: 10.14309/crj.0000000000001296. eCollection 2024 Mar.
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.
14号染色体嵌合三体极为罕见，于20世纪70年代首次被描述，已知的活产个体不到100例。关于该疾病并发症和自然史的信息很少，尤其是在成年患者中。本病例展示了一名患有14号染色体嵌合三体且功能严重受限的成年患者，该患者出现腹痛和发育不良，随后被发现患有肠套叠和严重的慢性便秘，经保守治疗成功治愈。
