title: Ataxia-pancytopenia syndrome.
abstract: 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.
authors.affiliation: Department of Genetics, Instituto Nacional de Pediatría, Mexico City, Mexico.
authors.forename: A
authors.initials: A
authors.lastname: González-del Angel
authors.forename: M
authors.initials: M
authors.lastname: Cervera
authors.forename: L
authors.initials: L
authors.lastname: Gómez
authors.forename: P
authors.initials: P
authors.lastname: Pérez-Vera
authors.forename: L
authors.initials: L
authors.lastname: Orozco
authors.forename: A
authors.initials: A
authors.lastname: Carnevale
authors.forename: V
authors.initials: V
authors.lastname: Del Castillo
mesh_terms: D000328:Adult; D001260:Ataxia Telangiectasia / Q000175:diagnosis; D002524:Cerebellar Ataxia / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D003937:Diagnosis, Differential; D005199:Fanconi Anemia / Q000175:diagnosis; D005260:Female; D006801:Humans; D007621:Karyotyping; D010198:Pancytopenia / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D013577:Syndrome