Division of Clinical Genetics, McMaster University, Hamilton, Canada.
Pediatr Neonatol. 2013 Jun;54(3):202-6. doi: 10.1016/j.pedneo.2013.01.009. Epub 2013 Mar 5.
Albeit rare, 3pter-p25 monosomy or 1q42-qter trisomy syndromes have been documented in the literature. Here, we report a unique case with a combination of 3pter-p25 monosomy and 1q42-qter trisomy, delineated by array comparative genomic hybridization analysis. The proband was a newborn male with multiple congenital anomalies that included brain malformation, ocular anomalies, trachea-laryngomalacia, cardiac defects, intestinal malrotation, and cutaneous findings in conjunction with biochemical anomalies, profound growth and developmental restriction, and early death. To our knowledge, this is the first case report of this unique chromosomal imbalance.
尽管罕见，但文献中已有 3pter-p25 单体性或 1q42-qter 三体性综合征的记载。在这里，我们报告了一例独特的病例，该病例通过阵列比较基因组杂交分析显示 3pter-p25 单体性和 1q42-qter 三体性的组合。先证者为一名新生儿男性，患有多种先天性畸形，包括脑畸形、眼部异常、气管-喉软化、心脏缺陷、肠旋转不良以及皮肤表现，同时伴有生化异常、严重的生长和发育受限以及早期死亡。据我们所知，这是首例此类独特染色体不平衡的病例报告。
