PDF(Pubmed)
Abstract：
Structural variation is a source of genetic variation that, in some cases, may trigger pathogenicity. Here, we describe two cases, a mother and son, with the same partial inverted duplication of the long arm of chromosome 8 [invdup(8)(q24.21q24.21)] of 17.18 Mb, showing different clinical manifestations: microcephaly, dorsal hypertrichosis, seizures and neuropsychomotor development delay in the child, and a cleft lip/palate, down-slanted palpebral fissures and learning disabilities in the mother. The deleterious outcome, in general, is reflected by the gain or loss of genetic material. However, discrepancies among the clinical manifestations raise some concerns about the genomic configuration within the chromosome and other genetic modifiers. With that in mind, we also performed a literature review of research published in the last 20 years about the duplication of the same, or close, chromosome region, seeking the elucidation of at least some relevant clinical features.
摘要：
结构变异是遗传变异的来源,在某些情况下,可能引发致病性。这里,我们描述了两种情况，母亲和儿子，具有17.18Mb的8号染色体[invdup（8）（q24.21q24.21）]的长臂的相同部分反向重复，表现出不同的临床表现：小头畸形，背侧多毛症，儿童癫痫发作和神经精神运动发育延迟，唇腭裂,倾斜的睑裂和母亲的学习障碍。有害的结果，总的来说,反映在遗传物质的得失上。然而,临床表现之间的差异引起了人们对染色体和其他遗传修饰因子内基因组结构的一些担忧。考虑到这一点，我们还对过去20年发表的关于重复的研究进行了文献综述，或关闭，染色体区，寻求阐明至少一些相关的临床特征。
