DOUBLE AUTOSOMAL TRISOMY: CASE REPORT (48, XX, +18, +21) AND REVIEW OF THE LITERATURE

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Abstract
A 12 mo. old female is reported with double trisomy of the autosomes 18 and 21 (48,XX,+18,+21), exhibiting the clinical features of mongolism. The findings of this patient and the data of 14 previously reported cases with double autosomal trisomy, 12 of them mosaics, may be summarized as follows: the mean birth weight was lower than in the single trisomies D, E, and G. The distribution of the maternal ages at birth of the patients was striking: 6 mothers were younger than 21 yr, 7 mothers were older than 34 yr. In those patients with prevalence of 1 of the 2 extra chromosomes in their karyotypes, the corresponding trisomy syndrome also predominated clinically. In those cases with an equal proportion of both additional chromosomes there were as many patients with clinical predominance of the one as of the other trisomy syndrome. Survival beyond the 2nd half of the 1st yr of life was seen only in those patients who showed the clinical picture of mongolism.