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Abstract
Research into the cause of mongolism has been stimulated by the finding that persons with this disease have an abnormal number of chromosomes.
The causes of mongolism are still not clearly understood, but it can be stated that the condition is characterized (and probably caused) by a trisomy of the small acrocentric chromosomes. Even in cases of mongolism with 46 chromosomes, a triplo-21 condition is present, although somewhat modified by translocation of one of the small chromosomes. A triplo-21 condition also has been found in two children who did not have mongolism.
There is evidence that the chromosomal aberration in itself is sufficient to produce mongolism, independent of environmental conditions.
Clinical symptomatology and environmental factors are reviewed.