title: Constitutional trisomy 8 mosaicism due to meiosis II non-disjunction in a phenotypically normal woman with hematologic abnormalities.
abstract: 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.
authors.affiliation: Departments of Medicine and Oncology, Georgetown University Hospital, 3800 Reservoir Road NW, Washington, DC 20007, USA.
authors.forename: Said
authors.initials: S
authors.lastname: Baidas
authors.forename: T-J
authors.initials: TJ
authors.lastname: Chen
authors.forename: Valentin
authors.initials: V
authors.lastname: Kolev
authors.forename: Lee-Jun
authors.initials: LJ
authors.lastname: Wong
authors.forename: Joel
authors.initials: J
authors.lastname: Imholte
authors.forename: Naigeng
authors.initials: N
authors.lastname: Qin
authors.forename: Jeanne
authors.initials: J
authors.lastname: Meck
mesh_terms: 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*