Blum-Hoffmann E, Rehder H, Langenbeck U
Institut für Humangenetik, University of Göttingen, Federal Republic of Germany.
Am J Med Genet. 1988 Jan;29(1):155-60. doi: 10.1002/ajmg.1320290120.
In a previous radiographic study on the feet of 71 adults with trisomy 21 we found, in comparison to control individuals, an increased prevalence of biphalangeal toes and metatarsophalangeal sesamoid bones. The present histological study on the feet of 21 mid-trimester fetuses with prenatally diagnosed trisomy 21 confirms results of the earlier study. At both stages of development these minor bone anomalies have about the same frequency, thus suggesting 1) that they are selectively neutral, and 2) that they reflect a basic (innate) failure of ordered morphogenesis. Our observation that the normal spatial pattern of skeletal variants is reproduced in trisomy 21 simply on a quantitatively higher level lends sound support to the hypothesis of amplified developmental instability in chromosome trisomies.
在之前一项针对71名21三体综合征成年患者足部的放射学研究中，我们发现，与对照个体相比，双趾骨脚趾和跖趾籽骨的患病率有所增加。目前这项针对21例产前诊断为21三体综合征的孕中期胎儿足部的组织学研究证实了早期研究的结果。在两个发育阶段，这些轻微的骨骼异常频率大致相同，因此表明：1）它们具有选择性中性；2）它们反映了有序形态发生的基本（先天性）失败。我们观察到，21三体综合征患者仅仅在数量上更高的水平上再现了骨骼变异的正常空间模式，这为染色体三体中发育不稳定性放大的假说提供了有力支持。
