Background Copy number variation (CNV) is a complex genomic rearrangement that has been linked to a large number of human diseases. Chromosome 15q13 microduplication is a rare form of CNV, which has been proved to be associated with multiple human disorders; however, the association between chromosome 15q13 microduplication and cardiac disorders has not been fully understood. Case presentation A fetus with fetal cardiac developmental defects was detected by Color Doppler ultrasound imaging; however, further chromosomal G-banding revealed no abnormal karyotype. Then, chromosomal microarray analysis (CMA) was performed and revealed a 1.8 Mb-duplication of the chromosome 15q13.2q13.3 region containing 7 genes (TRPM1, KLF13, OTUD7A, CHRNA7, FAN1, MIR211 and RAHGAP11A). Cardiac ultrasound follow-up displayed significant enlargement of the space-occupying lesion in the fetal heart with extension of the gestational age, and the space-occupying lesion was finally pathologically diagnosed as cardiac rhabdomyoma. Next-generation sequencing revealed no mutations in the TSC1 or TSC2 gene in the fetus, the mother or the father. Conclusions This is the first report to demonstrate the potential association between chromosome 15q13 microduplication and fetal cardiac rhabdomyoma. It is recommended that CMA be employed in fetuses with abnormal cardiac development diagnosed by routine cardiac color Doppler ultrasound imaging for early detection of congenital genetic abnormality, which may provide valuable information for prenatal diagnostic consultation and the decision on pregnancy termination.

中文翻译：

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心脏横纹肌瘤胎儿染色体 15q13 微复制：病例报告。

背景拷贝数变异（CNV）是一种复杂的基因组重排，与大量人类疾病有关。染色体 15q13 微复制是一种罕见的 CNV 形式，已被证明与多种人类疾病有关；然而，尚未完全了解染色体 15q13 微复制与心脏疾病之间的关联。病例介绍 彩色多普勒超声检查发现胎儿有胎儿心脏发育缺陷；然而，进一步的染色体 G 显带显示没有异常核型。然后，进行染色体微阵列分析 (CMA) 并显示染色体 15q13.2q13.3 区域的 1.8 Mb 重复，其中包含 7 个基因（TRPM1、KLF13、OTUD7A、CHRNA7、FAN1、MIR211 和 RAHGAP11A）。心脏超声随访显示，随着胎龄的延长，胎心占位性病变明显增大，最终病理诊断为心脏横纹肌瘤。下一代测序显示胎儿、母亲或父亲的 TSC1 或 TSC2 基因没有突变。结论 这是第一份证明染色体 15q13 微复制与胎儿心脏横纹肌瘤之间潜在关联的报告。建议对常规心脏彩色多普勒超声诊断心脏发育异常的胎儿应用CMA，早期发现先天性遗传异常，可为产前诊断会诊和终止妊娠决策提供有价值的信息。