Andrieux Joris, Cuvellier Jean-Christophe, Duban-Bedu Bénédicte, Joriot-Chekaf Sylvie, Dieux-Coeslier Anne, Manouvrier-Hanu Sylvie, Delobel Bruno, Vallee Louis
Eur J Med Genet. 2008 Jan-Feb;51(1):87-91. doi: 10.1016/j.ejmg.2007.10.004. Epub 2007 Oct 22.
We here report a boy presenting with developmental delay, growth retardation, facial dysmorphisms, vermis hypoplasia, micropolygyria and corpus callosum agenesis. Conventional and high resolution cytogenetic analyses were normal but high resolution oligonucleotide array-CGH, performed at the age of 4 years, allowed the characterisation of a de novo 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication. Numerous 1qter deletions have already been described associated with brain malformations. Among 1q44 deleted genes, AKT3 is the strongest candidate gene for vermis hypoplasia and corpus callosum agenesis.
我们在此报告一名患有发育迟缓、生长发育迟缓、面部畸形、小脑蚓部发育不全、多小脑回畸形和胼胝体发育不全的男孩。常规和高分辨率细胞遗传学分析均正常，但在4岁时进行的高分辨率寡核苷酸阵列比较基因组杂交（array-CGH）检测发现了一个新发的6.9 Mb 1q末端缺失/4.4 Mb 18p末端重复。此前已有许多1q末端缺失与脑畸形相关的报道。在1q44缺失的基因中，AKT3是小脑蚓部发育不全和胼胝体发育不全的最强候选基因。
