Massara Lucía S, Delea Marisol, Espeche Lucía, Bruque Carlos D, Oliveri Jaen, Brun Paloma, Furforo Lilian, Dain Liliana, Rozental Sandra
Cytogenet Genome Res. 2019;159(3):137-142. doi: 10.1159/000504238. Epub 2019 Nov 30.
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.
染色体三体是人类中最常见的主要染色体异常，可呈嵌合型或非嵌合型。我们报告了首例患有多种先天性异常的新生女婴病例，通过阵列比较基因组杂交检测到其存在涉及14号染色体和X染色体的双重嵌合三体。核型分析显示为双重嵌合体，有2个独立的异常细胞系，且不存在46,XX和48,XXX,+14细胞谱系。该患者表现出嵌合型14号染色体三体的大多数临床特征。对先证者血样中的常染色体DNA标记物进行分析，不支持存在嵌合体。对X染色体DNA标记物的进一步分析表明，额外的X染色体很可能是母系减数分裂II期不分离的结果。
