Differentiation of Nijmegen breakage syndrome from Fanconi anemia
Genet. mol. res. (Online)
;
6(3): 622-626, 2007. ilus
Artículo
en Inglés
| 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:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Síndrome de Nijmegen
/
Anemia de Fanconi
Tipo de estudio:
Estudio diagnóstico
Límite:
Niño
/
Femenino
/
Humanos
Idioma:
Inglés
Revista:
Genet. mol. res. (Online)
Asunto de la revista:
Biologia Molecular
/
Genética
Año:
2007
Tipo del documento:
Artículo
País de afiliación:
India
Institución/País de afiliación:
K.E.M Hospital Campus/IN
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