Document Detail

Variable response to the diepoxybutane test in two dizygotic twins with Fanconi's anemia and flow cytometry for diagnosis confirmation.
MedLine Citation:
PMID:  9509505     Owner:  NLM     Status:  MEDLINE    
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.
R Toraldo; G Canino; C Tolone; M D'Avanzo; B Porfirio; H Hoehn; T Schroeder-Kurth; V Pistoia
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric hematology and oncology     Volume:  15     ISSN:  0888-0018     ISO Abbreviation:  Pediatr Hematol Oncol     Publication Date:    1998 Jan-Feb
Date Detail:
Created Date:  1998-04-14     Completed Date:  1998-04-14     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8700164     Medline TA:  Pediatr Hematol Oncol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  45-54     Citation Subset:  IM    
Department of Pediatrics, Second University of Naples, Italy.
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MeSH Terms
Adrenal Cortex Hormones / therapeutic use
Androgens / therapeutic use
Blood Transfusion
Cell Cycle
Chromosome Aberrations
Cross-Linking Reagents
Diseases in Twins*
Epoxy Compounds / diagnostic use*
Erythropoietin / therapeutic use
Fanconi Anemia / diagnosis*,  genetics,  therapy
Flow Cytometry / methods
Lymphocytes / immunology,  pathology
Prednisone / therapeutic use
Twins, Dizygotic*
Reg. No./Substance:
0/Adrenal Cortex Hormones; 0/Androgens; 0/Cross-Linking Reagents; 0/Epoxy Compounds; 11096-26-7/Erythropoietin; 1464-53-5/erythritol anhydride; 53-03-2/Prednisone

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