Fear C, Briggs A
Arch Dis Child. 1979 Feb;54(2):135-8. doi: 10.1136/adc.54.2.135.
A case of partial trisomy of the long arm of chromosome 3 (3q21 leads to qter) is described. The clinical findings are compared with those in 5 previously reported cases. There is hirsutism and characteristic facial dysmorphism, the common features of which are a square-shaped face, prominent nasal bridge, everted nostrils, hypertelorism, and palate abnormalities; occurring less often are abnormalities of vertebrae, thorax, and digits, or cardiovascular, urinogenital, and central nervous system. New features noted in this present case are absence of right eye from orbit and spina bifida. The spectrum of this syndrome is discussed, with possible relation to the degree of trisomy. The present case is the 6th to be reported with partial trisomy of the long arm of chromosome 3.
本文描述了一例3号染色体长臂部分三体（3q21至qter）的病例。将该病例的临床发现与之前报道的5例病例进行了比较。患者存在多毛症和特征性面部畸形，其共同特征为方形脸、鼻梁突出、鼻孔外翻、眼距增宽和腭部异常；较少出现的异常包括脊椎、胸部和手指异常，或心血管、泌尿生殖系统及中枢神经系统异常。该病例中新发现的特征为右眼眼眶缺失和脊柱裂。本文讨论了该综合征的范围，并探讨了其与三体程度的可能关系。该病例是第6例报道的3号染色体长臂部分三体病例。
