Berry R, Wilson H, Robinson J, Sandlin C, Tyson W, Campbell J, Porreco R, Manchester D
Department of Pediatric Medicine, Children's Hospital, Denver, CO 80218.
Am J Med Genet. 1989 Nov;34(3):358-65. doi: 10.1002/ajmg.1320340312.
We describe a family in which one male infant presented with Miller-Dieker syndrome and four male relatives had a phenotype similar to the Smith-Lemli-Opitz (SLO) syndrome. High resolution cytogenetic analysis on the child with Miller-Dieker syndrome showed 46,XY,-17,+der17t(7;17)(q34:p13.1). Paternal chromosomes showed a balanced translocation: 46,XY,t(7;17)(q34:p13.1). The paternal grandmother had a history of multiple miscarriages, and a paternal uncle had two sons who died neonatally. Chromosomes on these children and their father had originally been reported as normal. There was also a paternal cousin to the father of the propositus who had had two sons with similar clinical findings. A diagnosis of SLO syndrome was considered. Image enhancement techniques on previous suboptimal preparations on these four children documented the subtle unbalanced translocation 46,XY,-7,+der7t(7;17)(q34:p13.1). Subsequent high resolution analysis on one of these four children who was still living confirmed this chromosome constitution. It is postulated that these apparent SLO cases may represent a contiguous gene syndrome in which SLO or a separate entity closely mimicking the syndrome in included.
我们描述了一个家族，其中一名男婴患有米勒 - 迪克尔综合征，另有四名男性亲属具有类似于史密斯 - 利姆利 - 奥皮茨（SLO）综合征的表型。对患有米勒 - 迪克尔综合征的患儿进行高分辨率细胞遗传学分析显示，其核型为46,XY,-17,+der17t(7;17)(q34:p13.1)。父亲的染色体显示为平衡易位：46,XY,t(7;17)(q34:p13.1)。孩子的祖母有多次流产史，孩子的一位叔叔有两个儿子在新生儿期死亡。这些孩子及其父亲的染色体最初报告为正常。先证者父亲的一位堂兄弟也有两个临床症状相似的儿子。考虑诊断为SLO综合征。对这四个孩子之前质量欠佳的染色体标本进行图像增强技术处理后，记录到了细微的不平衡易位46,XY,-7,+der7t(7;17)(q34:p13.1)。随后对这四个孩子中仍在世的一个进行高分辨率分析，证实了这种染色体构成。据推测，这些明显的SLO病例可能代表一种连续性基因综合征，其中包含SLO或一种与之极为相似的单独病症。
