Constitutional trisomy 8 mosaicism due to meiosis II non-disjunction in a phenotypically normal woman with hematologic abnormalities.
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.
Baidas
Said
S
Departments of Medicine and Oncology, Georgetown University Hospital, 3800 Reservoir Road NW, Washington, DC 20007, USA.
Chen
T-J
TJ
Kolev
Valentin
V
Wong
Lee-Jun
LJ
Imholte
Joel
J
Qin
Naigeng
N
Meck
Jeanne
J
D000328:Adult; D000748:Anemia, Macrocytic / Q000150:complications; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D005260:Female; D006801:Humans; D008540:Meiosis / Q000235:genetics; D009030:Mosaicism / Q000235:genetics*; D009630:Nondisjunction, Genetic; D010641:Phenotype; D013281:Stomatitis, Aphthous / Q000150:complications; D014314:Trisomy / Q000235:genetics*