Abstract. In a liveborn infant with 69 chromosomes some symptoms have been found which were also seen among the cases of triploidy reported before. The characteristic face, syndactyly, coloboma, abnormal neurological and sexual development, and increased number of digital whorls are the most frequent findings. Ill our case we found arhinencephaly, bilateral mierophthalmy with colobomata iridis, eheilognathopalatoschisis, syndactyly of the III--1V finger, bilateral simian crease, mola hydatiformis of placenta.There was strong Rh immunization of the mother who was rh negative, possibly due to an increased erythrocyte antigen strength, because of triple gene dosage of the child.
A patient with Down’s syndrome was found to have a modal number of 46 with a trisomy 21 and a reciprocal translocation in the 13–15 group. Several members of his immediate family were phenotypically normal carriers of a similar reciprocal translocation in the 13–15 group. Extensive blood grouping studies gave the very tentative suggestion of a possible linkage between the Gm-locus and the translocation chromosome.
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