In this study, we present a case with distal 3p duplication and 22q13.3 deletion due to unbalanced meiotic segregation in her father carrying a balanced translocation. The 2-month-old girl was examined for her severe hypotonia, developmental delay, and mild dysmorphic appearance. Clinical features include broad forehead, hypertelorism, laterally extended eyebrows, long eyelashes, a depressed nasal root, bifid nasal tip, long philtrum, thin lips, posteriorly rotated ears, short neck, partial syndactyly of the right hand (fingers 3, 4) , and partial syndactyly of the right foot (toes 2, 3). After examination, the final karyotype was reported as: 46,XX,der(22)del(22)(qter)dup(3)(p22pter), and the array-CGH results showed arr[GRCh37] 3p26.3p22.1(93949_41518607)×3 and arr[GRCh37] 22q13.31q13.33(44554083_51224252)×1. The mother has a 46,XX karyotype, and her father carries a balanced translocation, 46,XY,t(3;22)(p26.3;q13.3). This is the first case with a distal 3p duplication and 22q13.3 deletion with severe hypotonia and developmental delay.
Mol Syndromol

中文翻译：

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远端3p复制和22q13.3缺失，由父系平衡易位引起的严重低眼压（3; 22）

在这项研究中，我们提出了一个病例，该病例由于父亲平衡的减数分裂分离不平衡，导致远端3p复制和22q13.3缺失。检查了这个2个月大的女孩的严重肌张力低下，发育迟缓和轻度畸形。临床特征包括额头宽大，肢端亢进，眉毛侧向伸展，长睫毛，鼻根凹陷，双裂鼻尖，长腓骨，嘴唇薄，后旋转耳朵，短脖子，右手的部分句法（手指3、4），右脚的趾骨和部分趾骨（趾2、3）。经检查，最终的核型据报道为：46，XX，der（22）del（22）（qter）dup（3）（p22pter），且阵列-CGH结果显示arr [GRCh37] 3p26.3p22.1（ 93949_41518607）×3和arr [GRCh37] 22q13.31q13.33（44554083_51224252）×1。母亲的核型为46，XX 她的父亲的平衡易位为46，XY，t（3; 22）（p26.3; q13.3）。这是首例远端3p复制和22q13.3缺失，伴严重的肌张力低下和发育迟缓的病例。
摩尔综合症