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...

Campomelic dysplasia is a skeletal dysplasia, characterized by the Pierre Robin sequence with cleft palate, associated with bowing and shortening of the long bones. This research aimed to report a variant with a missense change in the SOX9 gene that was previously described as uncertain meaning, in an infant with clinical-radiological characteristics for campomelic dysplasia. Male patient seven days old, what was evaluated by clinical genetics, who presented the physical examination Robin sequence with cleft soft palate, lower extremities with dimpled skin over curved long bones, with brachydactyly and equinovarus feet. The radiographs showed a narrow chest with 11 pairs of ribs, hypoplasia of the scapulae, non-mineralized hypoplastic pedicles of the thoracic vertebrae, anterolateral bowing (at the junction of the proximal 1/3 and the distal 2/3) in the femurs, tibias with slight anterio...