Keeling J W, Hansen B F, Kjaer I
Department of Pathology and Cytogenetics, Royal Hospital for Sick Children, Edinburgh, Scotland.
Am J Med Genet. 1997 Feb 11;68(4):466-71.
In the present study, we analyzed the development of the axial skeleton in human trisomy 21 fetuses and defined the fields in the axial skeleton affected in this form of aneuploidy. We investigated 31 human fetuses with trisomy 21, gestational ages 12-24 weeks, on the basis of radiographs of midsagittal tissue blocks of the axial skeleton, comprising the cranial base and the spine. Malformation or agenesis of the nasal bone was present in 19 of 31 fetuses. Nineteen cases had vertebral malformations. Fourteen fetuses had malformations in the cervical region, four in the thoracic and eight in the lumbosacral region. In 1 of 31 fetuses, malformation was seen in the basilar part of the occipital bone. The basisphenoid component appeared scallop-shaped in 30 cases. The pattern of axial skeletal malformations in trisomy 21 fetuses recorded here has not been described previously. Comparison is made with our recent study of trisomy 18, where the pattern of axial skeletal malformations was quite different. It is recommended that axial skeletal radiography should be part of the autopsy of fetuses where chromosome abnormalities are known or suspected.
在本研究中，我们分析了21三体胎儿中轴骨骼的发育情况，并确定了这种非整倍体形式所影响的中轴骨骼区域。我们基于包括颅底和脊柱在内的中轴骨骼矢状面组织块的X线片，研究了31例孕龄为12 - 24周的21三体胎儿。31例胎儿中有19例存在鼻骨畸形或发育不全。19例有椎体畸形。14例胎儿在颈部区域有畸形，4例在胸部，8例在腰骶部。31例胎儿中有1例在枕骨基底部分出现畸形。30例蝶骨基底成分呈扇形。此处记录的21三体胎儿中轴骨骼畸形模式此前尚未见报道。将其与我们最近对18三体的研究进行比较，18三体的中轴骨骼畸形模式有很大不同。建议对已知或怀疑有染色体异常的胎儿进行尸检时，应包括中轴骨骼X线检查。
