Variable response to the diepoxybutane test in two dizygotic twins with Fanconi's anemia and flow cytometry for diagnosis confirmation.
Pediatr Hematol Oncol
; 15(1): 45-54, 1998.
Article
em En
| MEDLINE
| ID: mdl-9509505
ABSTRACT
Fanconi's anemia (FA) is a rare, genetically heterogeneous, autosomal recessive disorder characterized by bone marrow failure, congenital abnormalities, chromosome instability, and increased susceptibility to neoplasia. Congenital abnormalities vary in location and in severity and not all patients are affected. Although the primary defect of FA is unknown, hypersensitivity to the clastogenic effect of agents that introduce cross-links in the DNA, such as diepoxybutane (DEB), is a marker of the FA phenotype in patients suffering from aplastic anemia without the physical characteristics of the syndrome and, conversely, in cases with abnormalities in the preanemic phase. We report the case of two dizygotic twins suffering from FA with discordant hematologic data. The DEB test repeated several times in various laboratories yielded conflicting results, whereas cell cycle studies by flow cytometry revealed a pattern typical of FA patients. Moreover, the flow cytometric pattern was correlated with the clinical severity of the disease.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Gêmeos Dizigóticos
/
Doenças em Gêmeos
/
Compostos de Epóxi
/
Anemia de Fanconi
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Pediatr Hematol Oncol
Assunto da revista:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Ano de publicação:
1998
Tipo de documento:
Article
País de afiliação:
Itália