Background Copy number variations (CNVs) involving the 17q12 region are associated with a broad range of clinical phenotypes. Deletion of the 17q12 chromosome results in structural or functional abnormalities in the kidney and urethra, type 5 diabetes (MODY5), and neurodevelopmental or neuropsychiatric disorders. Microduplication of 17q12 is rare and is associated with an increased risk of epilepsy and mental retardation. We studied the prenatal diagnosis of 17q12 microduplication and microdeletion syndrome in fetuses with congenital renal abnormalities. Case presentation We conducted a retrospective analysis of prenatal diagnoses in our hospital from January 2016 to April 2018. Abnormal renal ultrasound findings were present in 126 fetuses and the incidence of chromosomal abnormalities was 10.32%(13/126). Conventional karyotyping detected 7 of 126 fetuses as aneuploid (5.56%). In addition, chromosome microarray analysis (CMA) detected 6 fetuses(4.76%) with copy number variations (CNVs), of which 5 were shown to have 17q12 microdeletion syndrome and 1 had 17q12 microduplication syndrome. We followed up these pregnant women. The results of the testing had a significant impact on pregnancy outcome. The phenotypes of 17q12 microdeletions and microduplications vary widely, affecting patients in different ways, such as language delays, social deficiencies, and even abortion. Conclusions The characteristics of 17q12 microdeletions and microduplications are so vague that the condition is often misdiagnosed or missed. This study demonstrated that karyotype analysis combined with CMA can significantly improve the diagnostic rate in prenatal diagnosis of CNVs, which can provide evidence for genetic counseling in such pregnancies.

中文翻译：

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先天性肾脏异常胎儿17q12微缺失和微重复综合征的产前诊断。

背景 涉及 17q12 区域的拷贝数变异 (CNV) 与广泛的临床表型相关。17q12 染色体缺失会导致肾脏和尿道的结构或功能异常、5 型糖尿病 (MODY5) 以及神经发育或神经精神疾病。17q12 的微复制很少见，并且与癫痫和智力低下的风险增加有关。我们研究了先天性肾脏异常胎儿的 17q12 微重复和微缺失综合征的产前诊断。病例介绍 我们对我院2016年1月至2018年4月的产前诊断进行回顾性分析。126例胎儿出现肾脏超声异常，染色体异常发生率为10.32%（13/126）。常规核型分析检测到 126 个胎儿中有 7 个为非整倍体（5.56%）。此外，染色体微阵列分析（CMA）检测到6例（4.76%）存在拷贝数变异（CNVs）的胎儿，其中5例为17q12微缺失综合征，1例为17q12微复制综合征。我们跟踪了这些孕妇。检测结果对妊娠结局有显着影响。17q12 微缺失和微重复的表型差异很大，以不同的方式影响患者，例如语言延迟、社交缺陷，甚至流产。结论 17q12微缺失和微重复的特征非常模糊，经常被误诊或漏诊。