Schwartz C E, Johnson J P, Holycross B, Mandeville T M, Sears T S, Graul E A, Carey J C, Schroer R J, Phelan M C, Szollar J
Greenwood Genetic Center, SC 29646.
Am J Hum Genet. 1988 Nov;43(5):597-604.
The Miller-Dieker syndrome (MDS), a syndrome with lissencephaly, distinctive craniofacial features, growth impairment, and profound developmental failure, has been associated with a deletion of the distal part of chromosome band 17p13. A minority of patients with the syndrome do not have a deletion detectable with current cytogenetic techniques. Using three highly polymorphic DNA probes (pYNZ22, pYNH37.3, and p144D6) we have detected microdeletions in three MDS patients, two of whom had no visible abnormalities of chromosome 17. Loci defined by two of the DNA probes, pYNZ22 and pYNH37.3, were deleted in all three patients. The most distal locus, defined by p144D6, was present in one MDS patient, possibly defining the distal limits of the MDS region in band 17p13.3. None of these loci were absent in one case of lissencephaly without MDS.
米勒 - 迪克尔综合征（MDS）是一种伴有无脑回畸形、独特颅面特征、生长发育迟缓及严重发育障碍的综合征，与17号染色体短臂13区带远端部分的缺失有关。少数该综合征患者用目前的细胞遗传学技术检测不到缺失。我们使用三种高度多态性的DNA探针（pYNZ22、pYNH37.3和p144D6）在三名MDS患者中检测到微缺失，其中两名患者的17号染色体无可见异常。在所有三名患者中，由两种DNA探针pYNZ22和pYNH37.3所界定的基因座均被缺失。由p144D6所界定的最远端基因座在一名MDS患者中存在，这可能界定了17p13.3区带中MDS区域的远端界限。在一例无MDS的无脑回畸形病例中，这些基因座均未缺失。
