A 1-month-old Japanese infant with cardiac rhabdomyoma was diagnosed with TSC2/PKD1 contiguous gene syndrome by targeted panel sequencing with subsequent quantitative polymerase chain reaction that revealed gross monoallelic deletion, including parts of two genes: exons 19–42 of TSC2 and exons 2–46 of PKD1. Early molecular diagnosis can help to detect bilateral renal cyst formation and multidisciplinary follow-up of this multisystem disease.

中文翻译：

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TSC2/PKD1 邻近基因综合征婴儿的分子诊断。

一名患有心脏横纹肌瘤的 1 个月大的日本婴儿被诊断患有TSC2 / PKD1连续基因综合征，通过靶向面板测序和随后的定量聚合酶链反应，显示出严重的单等位基因缺失，包括两个基因的部分： TSC2的外显子 19-42 和外显子PKD1的 2–46。早期分子诊断有助于检测双侧肾囊肿的形成以及对这种多系统疾病的多学科随访。