WAGR 11p13 deletion syndrome is associated with abnormalities including (W) ilms tumor, (A) niridia, (G) enitourinary abnormalities, and growth and mental (R) etardation (WAGR). Potocki–Schaffer syndrome is a contiguous gene syndrome associated with deletions in 11p11.2, principal features of which are multiple exostoses, parietal foramina development delay, mental retardation, and facial dysmorphism. In some cases, males may have enlarged anterior fontanels and genital abnormalities. Each of these syndromes is very rare. Here we report a patient with both WAGR and Potocki–Shaffer syndromes who presented with aniridia, nystagmus, macular dysplasia, enlarged anterior fontanel, mental retardation, ptosis, low-set ears, micrognathia, and atrial septal defect at 6 months old. SNP array revealed a large (26.25 Mb)deletion: arr[hg19]11p15.1p11.2(18742043–44991839)× 1. Genetic testing allowed for diagnosis of this patient at a very young age. In addition to the postnatal phenotype of the patient, we found one prenatal symptom of these syndromes is oligohydramnios, which when present might indicate advanced prenatal diagnosis. This made the possibility of prenatal diagnosis for these syndromes.

中文翻译：

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通过 SNP 阵列测试鉴定具有 WAGR 和 Potocki-Shaffer 连续缺失综合征组合的 6 个月大婴儿

WAGR 11p13 缺失综合征与异常相关，包括 (W) ilms 肿瘤、(A) niridia、(G) 泌尿系统异常以及生长和精神 (R) 延迟 (WAGR)。Potocki-Schaffer 综合征是一种与 11p11.2 缺失相关的连续基因综合征，其主要特征是多发性外生骨赘、顶叶孔发育迟缓、智力低下和面部畸形。在某些情况下，男性可能有扩大的前囟和生殖器异常。这些综合征中的每一种都非常罕见。在这里，我们报告了一名患有 WAGR 和 Potocki-Shaffer 综合征的患者，他们在 6 个月大时表现为无虹膜、眼球震颤、黄斑发育不良、前囟扩大、智力低下、上睑下垂、低位耳、小颌畸形和房间隔缺损。SNP 阵列显示大 (26.25 Mb) 缺失：arr[hg19]11p15.1p11。2(18742043–44991839)× 1. 基因检测允许在非常年轻的时候诊断该患者。除了患者的产后表型外，我们还发现这些综合征的一种产前症状是羊水过少，如果出现这种症状，可能表明产前诊断已经很先进。这使得对这些综合征进行产前诊断成为可能。