Observational study reveals high brachymesophalangia-5 rates lacking cone-epiphysis in Down syndrome, suggesting mechanisms beyond simple trisomy 21 gene dosage.
Brachymesophalangia‐5 proved to be far more frequent in 212 cases of Down's syndrome karyotype (i.e., 21%) than in 14,197 survey volunteers of European ancestry (1.4%). However, none of 28 juvenile Down's syndrome patients with brachymesophalangia‐5 exhibited a cone‐epiphysis on mid‐5, as against the 47% that would be expected. Apparently the manifestation of brachymesophalangia‐5 in the 47,G + karyotype is not simply a dosage effect associated with trisomy of chromosome 21.
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Garn et al. (1972) studied this question.
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