Magenis R E, Brown M G, Allen L, Reiss J
Am J Med Genet. 1986 Jul;24(3):415-20. doi: 10.1002/ajmg.1320240304.
Duplication of band p11.2 and a small proximal portion of band p12 of chromosome 17 was noted in an infant with unusual facial appearance and left calcaneovalgus deformity. Developmental delay was documented over time. Only one other similar case has been found in the literature, but deletion of the same region is known in nine recently described cases [Smith et al, 1986]. This suggests that abnormalities of this small region of 17p are relatively common and only recently detectable with modern high-resolution techniques.
在一名面部外观异常且有左跟骨外翻畸形的婴儿中，发现17号染色体p11.2带及p12带一小部分近端区域存在重复。随着时间推移，该婴儿出现发育迟缓。文献中仅发现另外一例类似病例，但在最近描述的9例病例中已知该相同区域存在缺失[史密斯等人，1986年]。这表明17p这一小区段的异常相对常见，且直到最近才可用现代高分辨率技术检测到。
