Turleau C, de Grouchy J, Perignon F, Lenoir G
Ann Genet. 1979;22(4):242-4.
A de novo terminal del (7)(q35) was found in a 3-month-old girl referred because of a peculiar cry. This observation, with seven others from the literature permit the delineation of a syndrome characterized by severe microcephaly with a flattened occiput, a bulbous nose, a "double chin", and a broad thorax with widely spaced nipples, without internal organ malformations. Assays of Hageman factor (XII) revealed normal values. The proposita is heterozygous Jk (a + b +). The parents and the proposita are iny-1.
在一名因特殊哭声前来就诊的3个月大女孩中发现了新发的7号染色体末端缺失（7）（q35）。该病例以及文献中的其他7例病例，使得一种综合征得以明确，其特征为严重小头畸形伴枕部扁平、球状鼻、“双下巴”以及胸部宽阔且乳头间距大，无内脏器官畸形。哈格曼因子（XII）检测显示值正常。先证者为Jk（a + b +）杂合子。父母及先证者均为iny-1。
