In a female with mental retardation, degenerative features, heart defect and congenital luxation of the left hip joint there was found an abnormal karyotype, revealing an acrocentric chromosome no. 2 and a metacentric chromosome in the C-group. The morphological patterns of the chromosomes and the phenotypical abnormalities in the patient lead to the assumption that the two chromosomal aberrations arose separately, rather than that it was a case of reciprocal translocation.