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http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2084| Título : | Ataxia-pancytopenia syndrome. |
| Creador: | González del Angel, Ariadna |
| Nivel de acceso: | Open access |
| Palabras clave : | Ataxia Telangiectasia - diagnóstico Pancitopenia - diagnóstico Pancitopenia - genética Pancitopenia - patología Ataxia Cerebelosa - diagnóstico Ataxia Cerebelosa - genética Ataxia Cerebelosa - patología Diagnóstico Diferencial Anemia de Fanconi - diagnóstico Ataxia Telangiectasia - diagnosis Pancytopenia - diagnosis Pancytopenia - genetics Pancytopenia - pathology Cerebellar Ataxia - diagnosis Cerebellar Ataxia - genetics Cerebellar Ataxia - pathology Diagnosis, Differential Fanconi Anemia - diagnosis ataxia pancitopenia ataxia telangiectasia anemia de Fanconi inestabilidad cromosómica ataxia pancytopenia ataxiatelangiectasia Fanconi anemia chromosome instability |
| Descripción : | We report on a Mexican girl who developed cerebellar ataxia at age 3 years and pancytopenia at age 13 years. Cerebral computed tomography scan and magnetic resonance imaging showed evidence of severe cerebellar atrophy. Telangiectasias were not present; immunoglobulins and alpha-fetoprotein levels were normal. Cytogenetic studies showed no evidence of spontaneous chromosome aberrations, a normal rate of diepoxybutane (DEB) and mitomycin C (MMC)-induced chromosome aberrations, but an increased response to bleomycin. The phenotype support the diagnosis of ataxia-pancytopenia syndrome, although monosomy of chromosome 7 was not found in bone marrow. The cytogenetic studies suggest that this may be a chromosomal instability disorder. |
| Colaborador(es) u otros Autores: | Cervera M Gómez L Pérez Vera P Orozco L Carnevale A Del Castillo V |
| Fecha de publicación : | 2000 |
| Tipo de publicación: | Artículo |
| Formato: | |
| Identificador del Recurso : | 10.1002/(SICI)1096-8628(20000131)90:3<252::AID-AJMG14>3.0.CO;2-V |
| Fuente: | American Journal of Medical Genetics 90(3):252 - 254 |
| URI : | http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2084 |
| Idioma: | eng |
| Aparece en las colecciones: | Artículos |
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