Constitutional Trisomy 8 Mosaicism with Persistent Macrocytosis.
Cytogenet Genome Res
; 150(1): 35-39, 2016.
Article
en 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
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Trisomía
/
Disomía Uniparental
/
Anemia Macrocítica
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
Límite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Cytogenet Genome Res
Asunto de la revista:
GENETICA
Año:
2016
Tipo del documento:
Article
País de afiliación:
Turquía