Relación fenotipo-cariotipo en un individuo con deleción intersticial del brazo largo del cromosoma 2
It is reported the case of a child of 9 months of age, who at the time of born, displayed multiple malformations and extensive hypotonia. The cytogenetical analysis revealed a intersticial deletion of the long arm of chromosome 2, karyotype: 46, XY, del(2)(q31,q33). The abnormality was detected by perfor...