Baidas Said, Chen T-J, Kolev Valentin, Wong Lee-Jun, Imholte Joel, Qin Naigeng, Meck Jeanne
Departments of Medicine and Oncology, Georgetown University Hospital, 3800 Reservoir Road NW, Washington, DC 20007, USA.
Am J Med Genet A. 2004 Feb 1;124A(4):383-7. doi: 10.1002/ajmg.a.20390.
Constitutional trisomy 8 mosaicism (CT8M) in liveborns is typically caused by mitotic non-disjunction and exhibits wide phenotypic variability. By contrast, CT8M due to meiotic errors usually results in miscarriage. We describe a case of CT8M due to a paternal meiosis II non-disjunction error. The patient, a 32-year-old woman, was phenotypically normal except for a history of recurrent aphthous ulcers since childhood and a 4-year history of macrocytosis. The ulcers were refractory to steroids, but responded well to thalidomide. To the best of our knowledge, this is the first report of CT8M due to meiotic non-disjunction in a phenotypically normal individual.
