title: Constitutional Trisomy 8 Mosaicism with Persistent Macrocytosis.
abstract: Constitutional trisomy 8 mosaicism (CT8M) is a rare chromosomal abnormality. The phenotype varies from normal features to severe malformations. CT8M increases the risk of developing leukemia and myelodysplastic syndrome. As CT8M is very rare, its diagnosis can easily be overlooked, especially in cases with mild phenotypes. Here, we report the diagnostic process of a 40-year-old female patient with CT8M and discuss the importance of follow-up in monitoring for hematological malignancies.
authors.affiliation: Department of Medical Genetics, Ankara University School of Medicine, Ankara, Turkey.
authors.forename: Şule
authors.initials: Ş
authors.lastname: Altıner
authors.forename: Nüket Y
authors.initials: NY
authors.lastname: Kutlay
authors.forename: Osman
authors.initials: O
authors.lastname: İlhan
mesh_terms: D000328:Adult; D000748:Anemia, Macrocytic / Q000150:complications / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D019337:Hematologic Neoplasms / Q000209:etiology / Q000235:genetics; D006801:Humans; D009030:Mosaicism; D035583:Rare Diseases / Q000175:diagnosis / Q000235:genetics; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics*; D024182:Uniparental Disomy / Q000175:diagnosis* / Q000235:genetics*