Abstract
Two female siblings, aged 5½ years and 7½ years, with similar clinical and apparently identical cytological findings are presented. They had marked mental deficiency, severe retardation in growth and development, microcephaly, cleft palate, micrognathia and low-set malformed ears. The younger one expired during the course of the study and autopsy revealed an atrial septal defect of the secundum type. Cells from peripheral blood cultures of both patients and cells from cultures of several different organs of the deceased patient consistently had 47 chromosomes. The extra small autosome could not be identified with certainty. It closely resembles one of the small acrocentrics, but the signs and symptoms of the two patients were quite different from those reported to be associated with trisomy for chromosome 21 (mongolism) or 22. Alternatively, it could be a deleted member of another group. As there are some clinical and pathological similarities to the syndromes associated with trisomy in groups 13–15 and 17–18, it is possible that this extra autosome is a deleted member of one of these groups. This is the second report of an extra autosome occurring in siblings except in mongolism.
Published Version
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