Cytogenetic and molecular miagnosis of Fanconi anemia

Abstract

Cytogenetic and Molecular Diagnosis of Fanconi Anemia Diagnóstico citogenético e molecular da anemia de Fanconi hyper-pigmentation, kidney and urinary tract malformations, and high risk of developing a malignant disease, particularly acute myelogenous leukaemia. 1 Somatic cell fusion studies have shown that FA is genetically heterogeneous, resulting from mutations in at least eight complementary gene groups (FANC A, B, C, D1, D2, E, F, and G). 1 Lymphocytes culture shows an increased sensitivity to the clastogenic agents diepoxybutane (DEB) or mytomycin (MMC). These agents induce DNA damage, mutations, chromosomal rearrangements and cell death in FA patients. 2 The DEB test is considered as the gold Avaliação: Editor e um revisor externo Conflito de interesse: não declarado

Características clínicas de pacientes com anemia de Fanconi

“…These figures are considered to be triradial when there are two breakages and tetraradial when there are three breakages. In the study of karyotype, the number, the type and the distribution of the chromosome breakages are detected in each cell (2,10,(20)(21)(22)(23) . The degree of sensitivity to DEB or MMC is not correlated with neither the phenotype nor the severity of the disease.…”

“…However, the effectiveness of this test has been questioned, since a negative result has been found in some cases diagnosed using the molecular analysis (10) . Furthermore, patients with mosaicism for FA (who have a genetic constitution with more than one type of cell line, usually a normal line and a line modified for the syndrome) may have a false-negative result.…”

“…Given the importance of identifying these patients and the lack of studies conducted in Brazil mainly focused on their clinical characteristics (10)(11)(12)(13)(14)(15) , the objective of the present study was to characterize the clinical profile of patients diagnosed with FA seen at a clinical genetics department.…”

Anemia de Fanconi, Parte 1. Diagnóstico citogenético.

“…In Latin America, there are few countries that perform the cytogenetic diagnosis of FA, [16][17][18] so we consider that it would be useful to present the description of the cytogenetic protocol used successfully in our laboratory for more than 30 years.…”

“…En América Latina, existen pocos países que realizan el diagnóstico citogenético de AF, [16][17][18] por lo que consideramos que sería de utilidad presentar la descripción del protocolo citogenético utilizado con éxito en nuestro laboratorio durante más de 30 años.…”