Chromosomal trisomies are the most frequent major chromosomal anomalies in humans and can be present in a mosaic or a non-mosaic constitution. We report the first case of a newborn girl presenting with multiple congenital anomalies and a double mosaic trisomy involving chromosome 14 and the X chromosome detected by array CGH. Karyotype analysis revealed a double mosaic with 2 independent abnormal cell lines and the absence of 46,XX and 48,XXX,+14 cell lineages. The patient showed most of the clinical characteristics of mosaic trisomy 14. Analysis of autosomal DNA markers in the proband's blood sample did not support the presence of chimerism. Further analysis of chromosome X DNA markers suggests that the extra X chromosome most probably arose as a consequence of nondisjunction in meiosis II in the maternal lineage.

中文翻译：

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多发先天性异常新生儿的双常染色体/性染色体嵌合三体 47,XXX/47,XX,+14

染色体三体是人类最常见的主要染色体异常，可以存在于镶嵌或非镶嵌结构中。我们报告了第一例新生儿多发先天性异常和双镶嵌三体性的病例，涉及 14 号染色体和阵列 CGH 检测到的 X 染色体。核型分析显示具有 2 个独立异常细胞系的双重镶嵌，并且不存在 46,XX 和 48,XXX,+14 个细胞谱系。患者表现出嵌合体 14 三体的大部分临床特征。先证者血液样本中常染色体 DNA 标记的分析不支持嵌合现象的存在。对 X 染色体 DNA 标记的进一步分析表明，额外的 X 染色体很可能是由于母系中减数分裂 II 不分离的结果。