Quiroga R, Monfort S, Oltra S, Ferrer-Bolufer I, Roselló M, Mayo S, Martinez F, Orellana C
Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Valencia, Spain.
Cytogenet Genome Res. 2011;133(1):78-83. doi: 10.1159/000322719. Epub 2011 Jan 13.
Several authors have attempted to construct a phenotype map for duplications of different portions of chromosome 18 to identify a possible critical region (CR) for Edwards Syndrome. Partial duplications of 18q have been reported in the literature involving the distal CR in patients with some clinical features of Edwards Syndrome. Here, we describe a phenotypically normal male with a large duplication on chromosome 18 that involves the proposed distal CR. The lack of clinical features is remarkable, except for pathological semen analysis, which suggests that terminal 17.4 Mb of 18q do not contain the Edwards Syndrome CR. Alternatively, unknown modifier factors or undetected somatic mosaicism might cause incomplete penetrance of this duplication.
几位作者试图构建18号染色体不同部分重复的表型图谱，以确定爱德华兹综合征可能的关键区域（CR）。文献中报道了18q的部分重复，涉及具有爱德华兹综合征某些临床特征患者的远端CR。在此，我们描述了一名表型正常的男性，其18号染色体存在一个涉及提议的远端CR的大片段重复。除了病理精液分析外，缺乏临床特征很显著，这表明18q末端的17.4 Mb不包含爱德华兹综合征CR。或者，未知的修饰因子或未检测到的体细胞镶嵌现象可能导致这种重复的不完全外显。
