Juvenile polyposis syndrome (JPS) is a rare autosomal dominant predisposition to hamartomatous polyps within the gastrointestinal tract, at high risk for malignant transformation. BMPR1A and SMAD4 loss-of-function variants account for 50% of the cases. More specifically, point mutations and structural abnormalities in BMPR1A lead to a highly penetrant yet variable phenotype of JPS. Intriguingly, in the developmental disorder caused by a recurrent 10q22.3q23.1 7 Mb deletion which includes BMPR1A, juvenile polyps have never been reported. We present the case of a young adult harboring this recurrent deletion, in a context of intellectual disability, ventricular septal defect and severe juvenile polyposis syndrome diagnosed at the age of 25 years, requiring a surgical preventive colectomy. She developed a gastric adenocarcinoma from which she died at the age of 32. We hypothesize that with the current available pangenomic CNV arrays, the diagnosis of 10q22.3q23.1 deletion is often made several years before the onset of the digestive phenotype, which could explain the absence of reports for juvenile polyps. This observation highlights the importance of an active digestive surveillance of patients with 10q22.3q23.1 deletion.

少年息肉综合征（JPS）是胃肠道内错构瘤性息肉的一种罕见的常染色体显性遗传易感性，易发生恶性转化。BMPR1A和SMAD4功能丧失型变型占案例总数的50％。更具体地说，BMPR1A中的点突变和结构异常会导致JPS的高渗透性但可变表型。有趣的是，在由反复发生的10q22.3q23.1 7 Mb缺失（包括BMPR1A）引起的发育障碍中，从未报告过少年息肉。我们提出了在智力残疾，室间隔缺损和25岁时诊断为严重的青少年息肉病综合征的情况下，这种反复缺失的年轻成年人的病例，需要手术预防性结肠切除术。她患上了胃腺癌，享年32岁，死于胃腺癌。我们假设，根据目前可用的全基因组CNV阵列，诊断10q22.3q23.1缺失通常是在消化表型发作之前的几年，这可以解释为什么没有关于息肉的报道。该观察结果突出了对10q22.3q23.1缺失的患者进行主动消化监测的重要性。