Duplication of the chromosomal material is usually the cause of inborn defects and of considerable deviations in the child’s phenotype. The authors describe the case of a child with severe degenerative stigmatization and marked ocular affection. Prenatal amniocentesis was performed on account of hypotrophy of the foetus and oligohydramnion. Derivation of the 10th chromosome was found and cytogenetic examination of the mother revealed a balanced translocation of 46,XX,t(10;13)(q26;q14). In the child karyotype 46,XY,der(10)t(10;13)(q26;q14)mat was found. A partial trisomy of the 13th chromosome is involved.

        Key words: chromosome 13, partial trisomy