Tayel S M, Kurczynski T W, Casperson S, McCorquodale M M
Department of Pediatrics, Medical College of Ohio, Toledo 43699.
Am J Med Genet. 1988 Dec;31(4):853-61. doi: 10.1002/ajmg.1320310419.
We have studied two sisters with partial deletion 9p and partial duplication 18q resulting from adjacent 1 segregation of a maternal translocation (9;18) (p22;q21.3). The clinical manifestations identified in our patients were compared with those reported in the literature for 9p- and 18q+ patients involving approximately the same amount of genetic material. There was relatively greater similarity with the 9p- syndrome than with dup (18q) syndrome, but typical characteristics of both conditions were lacking.
我们研究了两名因母亲的（9；18）（p22；q21.3）易位相邻1分离而导致9号染色体短臂部分缺失和18号染色体长臂部分重复的姐妹。将我们患者中发现的临床表现与文献中报道的涉及大致相同遗传物质数量的9p-和18q+患者的临床表现进行了比较。与9p-综合征相比，与dup（18q）综合征的相似性相对更大，但两种情况的典型特征均不存在。
