Boghosian-Sell L, Mewar R, Harrison W, Shapiro R M, Zackai E H, Carey J, Davis-Keppen L, Hudgins L, Overhauser J
Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA 19107.
Am J Hum Genet. 1994 Sep;55(3):476-83.
In an effort to identify regions on chromosome 18 that may be critical in the appearance of the Edwards syndrome phenotype, we have analyzed six patients with partial duplication of chromosome 18. Four of the patients have duplications involving the distal half of 18q (18q21.1-qter) and are very mildly affected. The remaining two patients have most of 18q (18q12.1-qter) duplicated, are severely affected, and have been diagnosed with Edwards syndrome. We have employed FISH, using DNA probes from a chromosome 18-specific library, for the precise determination of the duplicated material in each of these patients. The clinical features and the extent of the chromosomal duplication in these patients were compared with four previously reported partial trisomy 18 patients, to identify regions of chromosome 18 that may be responsible for certain clinical features of trisomy 18. The comparative analysis confirmed that there is no single region on 18q that is sufficient to produce the trisomy 18 phenotype and identified two regions on 18q that may work in conjunction to produce the Edwards syndrome phenotype. In addition, correlative analysis indicates that duplication of 18q12.3-q22.1 may be associated with more severe mental retardation in trisomy 18 individuals.
为了确定18号染色体上可能对爱德华兹综合征表型出现至关重要的区域，我们分析了6例18号染色体部分重复的患者。其中4例患者的重复涉及18q的远端半段（18q21.1-qter），症状非常轻微。其余2例患者的18q大部分（18q12.1-qter）重复，症状严重，并已被诊断为爱德华兹综合征。我们使用来自18号染色体特异性文库的DNA探针进行荧光原位杂交（FISH），以精确确定这些患者中每例的重复物质。将这些患者的临床特征和染色体重复程度与之前报道的4例部分18三体患者进行比较，以确定18号染色体上可能导致18三体某些临床特征的区域。比较分析证实，18q上没有单一区域足以产生18三体表型，并确定了18q上两个可能共同作用产生爱德华兹综合征表型的区域。此外，相关分析表明，18q12.3-q22.1的重复可能与18三体个体更严重的智力迟钝有关
