Schoeneman M, Nitowsky M M
J Med Genet. 1976 Dec;13(6):522-5. doi: 10.1136/jmg.13.6.522.
An infant with the syndrome of deletion of the short arm of chromosome 4 is described. In addition, this child had renal insufficiency, which is found rarely in association with the 4p(--) syndrome. Previous reports of this syndrome have described only isolated gross structural abnormalites of the urinary tract. In the case discussed here, we present clinical and functional data which indicate that this patient had bilateral renal dysplasia.
本文描述了一名患有4号染色体短臂缺失综合征的婴儿。此外，该患儿还患有肾功能不全，这在4p（--）综合征中较为罕见。此前关于该综合征的报道仅描述了泌尿系统孤立的大体结构异常。在本文所讨论的病例中，我们提供了临床和功能数据，表明该患者患有双侧肾发育不全。
