Differentiation of Nijmegen breakage syndrome from Fanconi anemia
Genet. mol. res. (Online)
;
6(3): 622-626, 2007. ilus
Article
in English
| LILACS
| ID: lil-498909
ABSTRACT
Nijmegen breakage syndrome (NBS) is a rare auto-somal recessive condition with chromosomal instability. Clinical and biological overlap between Fanconi anemia and ataxia telangiectasia has been reported. We report two cases of NBS born to consanguineous parents. Case one had NBS and Falconi anemia clinical features but relatively little chromosome breakage. The second case had mild NBS features, while cytogenetic evaluation with mitomycin C induction showed chromosome damage. Chromosomal analysis of bone marrow cells revealed tetraploidy, which indicates progression towards leukemia. On the basis of clinical and cytogenetic evaluation, these two cases were confirmed as NBS. However, detailed molecular studies are essential for accurate diagnosis and management of this disease.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Nijmegen Breakage Syndrome
/
Fanconi Anemia
Type of study:
Diagnostic study
Limits:
Child
/
Female
/
Humans
Language:
English
Journal:
Genet. mol. res. (Online)
Journal subject:
Molecular Biology
/
Genetics
Year:
2007
Type:
Article
Affiliation country:
India
Institution/Affiliation country:
K.E.M Hospital Campus/IN
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