Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Calambrone, 56128 Pisa, Italy.
Tuscan PhD Program of Neuroscience, University of Florence, Pisa and Siena, 50139 Florence, Italy.
Genes (Basel). 2021 Oct 21;12(11):1660. doi: 10.3390/genes12111660.
Syndromic neurodevelopmental disorders are usually investigated through genetics technologies, within which array comparative genomic hybridization (Array-CGH) is still considered the first-tier clinical diagnostic test. Among recurrent syndromic imbalances, 17q12 deletions and duplications are characterized by neurodevelopmental disorders associated with visceral developmental disorders, although expressive variability is common. Here we describe a case series of 12 patients with 17q12 chromosomal imbalances, in order to expand the phenotypic characterization of these recurrent syndromes whose diagnosis is often underestimated, especially if only mild traits are present. Gene content and genotype-phenotype correlations have been discussed, with special regard to neuropsychiatric features, whose impact often requires etiologic analysis.
综合征性神经发育障碍通常通过遗传学技术进行研究，其中阵列比较基因组杂交（Array-CGH）仍然被认为是一线临床诊断测试。在反复出现的综合征性失衡中，17q12 缺失和重复与伴有内脏发育障碍的神经发育障碍有关，尽管表达的变异性很常见。在这里，我们描述了一系列 12 例 17q12 染色体不平衡的患者，以扩大这些反复出现的综合征的表型特征，这些综合征的诊断往往被低估，尤其是在仅存在轻微特征的情况下。已经讨论了基因内容和基因型-表型相关性，特别关注神经精神特征，其影响通常需要进行病因分析。
