In this report, we present a new case of mosaic trisomy 13 with prolonged survival, firstly detected by array-CGH analysis which was carried out because of moderate intellectual disability with postaxial hexadactyly, dermatologic features, ventricular septal defect, bicuspid aortic valve, and aortic dystrophy in a 19-year-old male patient. In a subset of 15% of the cells, the patient carried a derivative chromosome 10 generated by a nonreciprocal (10;13) translocation inherited from his healthy mother who carried the translocation in a balanced and homogeneous state. FISH analyses showed interstitial telomeric sequences at the breakpoints. To our knowledge, this is the second report of a patient with trisomy 13 mosaicism displaying a severe aortic root dilatation. We also discuss the mechanisms which could explain the mosaic state, the most likely one being related to the instability of the interstitial telomere.

中文翻译：

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13 三体嵌合体因不可预测的细胞遗传学机制而出现严重主动脉根部扩张和马凡氏样习惯的病例

在本报告中，我们提出了一个新的 13 三体性马赛克病例，存活期延长，首先通过阵列 CGH 分析检测到，该分析是由于中度智力障碍，具有轴后六指畸形、皮肤病学特征、室间隔缺损、二叶主动脉瓣和主动脉瓣。一名 19 岁男性患者的营养不良。在 15% 的细胞子集中，患者携带由非互易 (10;13) 易位产生的衍生染色体 10，该易位遗传自他的健康母亲，母亲以平衡和同质状态携带易位。FISH 分析显示断点处有间隙端粒序列。据我们所知，这是显示严重主动脉根部扩张的 13 三体嵌合患者的第二份报告。我们还讨论了可以解释马赛克状态的机制，