Aberrant Chromosome 13–15 in a Patient with Down’s Syndrome, Diabetes Mellitus and Hyperthyroidism and in his Father
- 1 January 1968
- journal article
- research article
- Published by S. Karger AG in Human Heredity
- Vol. 18 (1) , 38-44
- https://doi.org/10.1159/000152118
Abstract
An extraordinarily rare case of the simultaneous incidence of Down''s syndrome, hyperthyreosis and diabetes is reported. The chromosomal analyses showed the regular trisomy-21 with enlargement of short arms and/or prominent satellites in 1 chromosome of the group 13-15. This aberration was found also in chromosomes 13-15 of the father, where it was present in 2 chromosomes. The most probable causation of Down''s syndrome seems to be the non-disjunction in mother, who was 41 years of age. The importance and the possible mechanisms of enlargement of short arms and/or giant satellites in acrocentric chromosomes is not yet clear.Keywords
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