Reciprocal translocations occur as a consequence of breakage in non-homologous chromosomes with exchange of the detached segments, characterized by the absence of loss of genetic material as a whole. This research aimed to evaluate the effects of the apparently balanced translocation in a family. A 5-year-old female patient presented a broad and prominent forehead, ocular hypertelorism, with low-set and backward-rotated earlobes, hypoplasia of the earlobes, low nasal bridge, anteverted nostrils, wide mouth, micro and retrognathia. Among the antecedents, she recorded a marked delay in neurodevelopment. The conventional cytogenetic study reported 46, XX,der(17), from the maternal reciprocal balanced translocation with a result of 46,XX,t(12;17) (q24.1;q25)mat as in the maternal grandmother. The cytogenetic method of fluorescence in situ hybridization in blood lymphocytes showed the presenc...