A new translocation involving chromosomes no. 5 and no. 12 t(5;12) (5q15;12p13).
A new case of translocation between chromosomes No. 5 and No. 12 is described. The translocation t(5;12) (5q15;12p13) is apparently balanced and was found in a child aged 3 1/2 years who was affected with severe psychomotor retardation. On the basis of the clinical picture it is suggested that the phenotype could be not dependent on the chromosomal alteration.
D002675:Child, Preschool; D002877:Chromosomes, Human / Q000648:ultrastructure; D002905:Chromosomes, Human, 4-5; D002906:Chromosomes, Human, 6-12 and X; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D014178:Translocation, Genetic