Distal duplication 22q (22q13.3qter) is a rare condition with only 24 cases described so far. Parental balanced reciprocal translocations and pericentric inversions involving chromosome 22 predispose to the conception of an unbalanced offspring and are more frequently reported than de novo events. The clinical phenotype of patients is highly variable and does not necessarily correlate with the extent of the duplicated segment. Short stature, microcephaly, hypertelorism, cleft lip or palate, low-set ears, and intellectual disability seem to be the most consistent features. Familial reoccurrence is extremely rarely reported. Here, we report 2 siblings with a 22q13.3qter duplication detected by array CGH; their mother is a carrier of a pericentric inversion in chromosome 22. Their relatively mild phenotype and identical chromosomal breakpoints as well as duplication size are unique. This is the first case described so far.
Mol Syndromol

中文翻译：

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具有轻度临床表型的兄弟姐妹中的22q13微复制综合征：扩大临床和行为谱。

远端重复22q（22q13.3qter）是一种罕见病，到目前为止仅描述了24例。父母平衡的易位易位和涉及22号染色体的周向性倒置易受不平衡后代的影响，并且比从头事件更频繁地被报道。患者的临床表型是高度可变的，并且不一定与重复区段的程度相关。矮小的身材，小头畸形，肢端亢进，嘴唇或pa裂，耳朵低落和智力障碍似乎是最一致的特征。家族性复发的报道极少。在这里，我们报告2个同胞，它们由阵列CGH检测到22q13.3qter重复；他们的母亲是22号染色体周向反转的载体。它们相对温和的表型和相同的染色体断裂点以及重复大小是独特的。这是迄今为止描述的第一种情况。
摩尔综合症