de Ravel Thomy, Aerssens Peter, Vermeesch Joris R, Fryns Jean-Pierre
Eur J Med Genet. 2005 Jul-Sep;48(3):355-9. doi: 10.1016/j.ejmg.2005.05.009.
A dysmorphic boy with severe mental retardation was found on array CGH to have an insertional translocation of chromosome 16p13.3 into the short arm of chromosome 22, karyotype 46,XY,.ish der(22),ins(22;16)(p13;p13.3p13.3) de novo. His clinical features overlap with the reported cases of 'duplication 16p' syndrome, namely a round face, hypertelorism, a long philtrum, micrognathia, a thin upper lip, a posterior cleft palate and low set, simple ears, clubbed feet, severe developmental delay, psychomotor retardation and seizures. This 4-year boy with trisomy 16p13.3 has the smallest duplication reported of this critical region, which could not be detected without array CGH. The maximal duplicated region is gene rich and contains about 80 genes and/or candidate genes. Assignment of the genes that contribute to the observed phenotype awaits the characterisation of other patients with small duplications in this region.
一名患有严重智力障碍的畸形男孩，经阵列比较基因组杂交（array CGH）检测发现，其16号染色体短臂13.3区发生插入易位至22号染色体短臂，核型为46,XY，.ish der(22),ins(22;16)(p13;p13.3p13.3) ，为新发突变。他的临床特征与已报道的“16p重复”综合征病例重叠，即圆脸、眼距增宽、人中长、小颌畸形、上唇薄、腭裂、低位简单耳、杵状趾、严重发育迟缓、精神运动发育迟缓和癫痫发作。这名患有16号染色体短臂13.3区三体的4岁男孩，拥有该关键区域已报道的最小重复片段，若不使用阵列比较基因组杂交则无法检测到。最大的重复区域富含基因，包含约80个基因和/或候选基因。确定导致所观察到的表型的基因，有待对该区域其他小重复片段的患者进行特征描述。
