A RE-INVESTIGATION OF AN INHERITED CHROMOSOME ABERRATION IN A GIRL WITH SIGNS OF DE LANGE SYNDROME

Abstract

An inherited chromosome aberration in a girl with signs of de Lange syndrome and her family was previously described. A translocation between a 13-15 and a 4-5 chromosome, with the unbalanced proposita having an additional segment from 1 end of a 13-15 chromosome was found. A 6-12 chromosome involvement could not be excluded. The mother and 2 phenotypically normal sisters had a balanced karyotype. With modern technique, a more complex translocation was found. A part of chromosome no. 5 is translocated to chromosome no. 9, a fragment of this chromosome is probably translocated to chromosome no. 13 and a part of this is translocated to the first-mentioned chromosome no. 5. The mother and sisters have this balanced chromosomal aberration. The proposita has 2 normal chromosomes no. 13. She has a partial trisomy of chromosome no. 13. Reinvestigation of older reports on chromosomal aberrations in risk families to achieve a more reliable diagnosis in phenotypically normal members of the same family is emphasized.