Werner W, Kraft S, Callen D F, Bartsch O, Hinkel G K
Institut für Klinische Genetik, Universitätsklinikum C.G. Carus, TU Dresden, Germany.
Am J Med Genet. 1997 Jun 27;70(4):371-6.
We report on a 5-year-old boy with bilateral coloboma of iris, short stature, moderate developmental delay, and a few minor craniofacial anomalies. High-resolution GTG banding showed a small distal deletion of one chromosome 16 [del(16)(q23.1q24.2)]. Molecular refinement of the deletion breakpoints yielded that the proximal breakpoint at 16q23.1 is located between loci D16S395 (present) and D16S348 (absent). Comparison with previously published cases of deletion 16q demonstrated that the clinical phenotype is not a recognizable 16q- syndrome and different from the two cases of deletions of 16(q22.1 to q24.1) described by Callen et al. [1993]. Evidently, deletion 16(q23.1q24.2) has a milder phenotypic effect than other interstitial and distal 16q deletions.
我们报告了一名5岁男孩，患有双侧虹膜缺损、身材矮小、中度发育迟缓以及一些轻微的颅面异常。高分辨率GTG显带显示16号染色体有一个小的远端缺失[del(16)(q23.1q24.2)]。对缺失断点的分子精细定位表明，16q23.1处的近端断点位于D16S395位点（存在）和D16S348位点（缺失）之间。与先前发表的16q缺失病例进行比较表明，该临床表型并非可识别的16q-综合征，且与Callen等人[1993年]描述的两例16(q22.1至q24.1)缺失病例不同。显然，16(q23.1q24.2)缺失比其他间质性和远端16q缺失具有更轻微的表型效应。
