Copy number gain 17 p13.3p13.1 was detected by chromosomal microarray (CMA) in a girl with developmental/speech delay and facial dysmorphism. FISH studies made it possible to establish that the identified genomic imbalance is the unbalanced t(9;17) translocation of maternal origin. Clinical features of the patient are also discussed. The advisability of using the combination of CMA and FISH analysis is shown. Copy number gains detected by clinical CMA should be confirmed using FISH analysis in order to determine the physical location of the duplicated segment. Parental follow-up studies is an important step to determine the origin of genomic imbalance. This approach not only allows a most comprehensive characterization of an identified chromosomal/genomic imbalance but also provision of an adequate medical and genetic counseling for a family taking into account a balanced chromosomal rearrangement.

中文翻译：

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一例由不平衡易位引起的 17p13.3p13.1 微重复新病例：临床和分子细胞遗传学特征

通过染色体微阵列 (CMA) 检测到一个患有发育/言语延迟和面部畸形的女孩的拷贝数增加 17 p13.3p13.1。FISH 研究可以确定已识别的基因组失衡是母源的不平衡 t(9;17) 易位。还讨论了患者的临床特征。显示了使用 CMA 和 FISH 分析组合的可取性。应使用 FISH 分析确认临床 CMA 检测到的拷贝数增益，以确定重复片段的物理位置。父母的后续研究是确定基因组失衡起源的重要步骤。