Anemia de Fanconi, Parte 1. Diagnóstico citogenético.
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| Title: | Anemia de Fanconi, Parte 1. Diagnóstico citogenético. |
|---|---|
| Alternate Title: | Fanconi anemia, Part 1. Cytogenetic diagnosis. |
| Authors: | Molina, Bertha1, Ramos, Sandra1, Frias, Sara1,2 sarafrias@iibiomedicas.unam.mx |
| Source: | Acta Pediatrica de Mexico. 2022, Vol. 43 Issue 2, p102-128. 27p. |
| Abstract (English): | Fanconi anemia is a rare disease, with a prevalence of 1-5 per million inhabitants; It is caused by the pathogenic variants, usually biallelic, in one of the 22 FANC genes that participate in the FA/BRCA, DNA repair pathway. Accurate diagnosis is crucial for appropriate and timely management and genetic counseling. This can be done through the diepoxybutane or mitomycin C challenge chromosomal aberration test, which is the gold standard for the diagnosis of this disease. This cytogenetic study can be performed in various types of tissues as long as there are cells undergoing mitosis, such as peripheral blood lymphocytes, bone marrow cells, fibroblasts and amniocytes. Both laboratory settings for diagnosis and chromosome analysis can be complex and need to be tightly controlled and interpreted by highly specialized personnel. In this article, we present a step by step guide describing the cytogenetic protocol successfully used in a mexican laboratory, for more than 30 years. [ABSTRACT FROM AUTHOR] |
| Abstract (Spanish): | La anemia de Fanconi es una enfermedad rara, con una prevalencia de 1-5 por millón de habitantes; se origina por las variantes patogénicas, generalmente bialélicas, en uno de los 22 genes FANC que participan en la vía de reparación del DNA llamada FA/BRCA. El diagnóstico preciso es fundamental para un tratamiento y asesoramientos genéticos adecuados y oportunos. Esto se puede hacer mediante la prueba de aberraciones cromosómicas inducidas con diepoxibutano o mitomicina C, que es el estándar de oro para el diagnóstico de esta enfermedad. Este estudio citogenético se puede realizar en varios tipos de tejidos siempre que haya células en mitosis, como linfocitos de sangre periférica, células de la médula ósea, fibroblastos y amniocitos. Tanto los métodos de laboratorio para el diagnóstico, como el análisis de cromosomas pueden ser complejos y deben ser realizados e interpretados estrictamente por personal altamente especializado. Presentamos una guía que describe el protocolo citogenético utilizado con éxito en un laboratorio mexicano, durante más de 30 años. [ABSTRACT FROM AUTHOR] |
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| Database: | MedicLatina |
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