title: [Ataxia telangiectasia. Diagnosis and follow-up in 4 cases].
abstract: Ataxia telangiectasia (AT) is a chromosomal instability syndrome with autosomal recessive inheritance, it is caused by more than 500 mutations of the ATM gene, which is involved in the cellular response to DNA damage. The diagnosis becomes difficult due to the evolution of the disease, their poor knowledge, and limited access to diagnostic tests. Chromosomal damage induced by ionizing radiation (IR) assay is still a sensitive method for early diagnosis, and it is essential for better management and genetic counseling. This paper shows diagnosis and follow-up in four cases with AT.
authors.affiliation: Laboratorio de Citogenética, Genotoxicidad y Biomonitoreo, Instituto de Genética Humana Dr. Enrique Corona Rivera, Departamento de Biología Molecular y Genómica, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, México. lucinabo@cucs.udg.mx.
authors.forename: César Eduardo
authors.initials: CE
authors.lastname: Monterrubio Ledezma
authors.forename: Alfredo
authors.initials: A
authors.lastname: Corona Rivera
authors.forename: Jorge Román
authors.initials: JR
authors.lastname: Corona Rivera
authors.forename: Lourdes Jocelyn
authors.initials: LJ
authors.lastname: Rodríguez Casillas
authors.forename: Juan
authors.initials: J
authors.lastname: Hernández Rocha
authors.forename: Patricio
authors.initials: P
authors.lastname: Barros Nuñez
authors.forename: Lucina
authors.initials: L
authors.lastname: Bobadilla Morales
mesh_terms: D000293:Adolescent; D001260:Ataxia Telangiectasia / Q000175:diagnosis*; D002648:Child; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male