Differentiation of Nijmegen breakage syndrome from Fanconi anemia
Genet. mol. res. (Online)
;
6(3): 622-626, 2007. ilus
Artigo
em Inglês
| 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.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Síndrome de Quebra de Nijmegen
/
Anemia de Fanconi
Tipo de estudo:
Estudo diagnóstico
Limite:
Criança
/
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Genet. mol. res. (Online)
Assunto da revista:
Biologia Molecular
/
Genética
Ano de publicação:
2007
Tipo de documento:
Artigo
País de afiliação:
Índia
Instituição/País de afiliação:
K.E.M Hospital Campus/IN
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