Constitutional Trisomy 8 Mosaicism with Persistent Macrocytosis.
Cytogenet Genome Res
; 150(1): 35-39, 2016.
Article
em En
| MEDLINE
| ID: mdl-27838684
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Trissomia
/
Dissomia Uniparental
/
Anemia Macrocítica
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
Limite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Cytogenet Genome Res
Assunto da revista:
GENETICA
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Turquia