Shapira M, Borochowitz Z, Bar-El H, Dar H, Etzioni A, Lorber A
Maccabi Polyclinic, Neve-Shaanan, Israel.
Am J Med Genet. 1994 Aug 1;52(1):34-8. doi: 10.1002/ajmg.1320520107.
Since the first description by Elliot et al. [1970, Am J Dis Child 119:72-73] of a probable partial deletion of chromosome 10p, 17 other cases have been reported. The phenotypic expression is variable, but the craniofacial malformations constitute a more consistent finding. The 10p deletion syndrome has been associated with the DiGeorge anomaly in several patients. We report on an additional case of 10p deletion syndrome and review the literature.
自埃利奥特等人[1970年，《美国小儿疾病杂志》119:72 - 73]首次描述可能的10号染色体短臂部分缺失以来，已报告了另外17例病例。其表型表达具有变异性，但颅面畸形是更一致的发现。在一些患者中，10号染色体短臂缺失综合征与迪格奥尔格异常有关。我们报告了一例新的10号染色体短臂缺失综合征病例并复习文献。
