Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.
Am J Med Genet A. 2011 Feb;155A(2):349-52. doi: 10.1002/ajmg.a.33811. Epub 2011 Jan 13.
Pure and complete 12p trisomy are rare. Here, we report on a unique patient with trisomy 12p syndrome due to centric fission of maternal chromosome 12. Conventional cytogenetic and fluorescence in situ hybridization (FISH) techniques revealed the proposita's karyotype to be 47,XX,+fis(12)(p10)mat whereas the maternal one was 47,XX,-12,+fis(12)(p10),+fis(12) (q10). This is the first report on centric fission of chromosome 12 leading to stable telocentrics, each with a fully functional centromere. Our observation shows that the centric fission of chromosome 12 can be a new mechanism for generation of a partial centromere and trisomy 12p syndrome.
纯合及完全 12p 三体非常罕见。在这里，我们报道了一例独特的 12p 三体综合征患者，其病因是母亲染色体 12 的着丝粒分裂。常规细胞遗传学和荧光原位杂交（FISH）技术显示，先证者的核型为 47,XX,+fis(12)(p10)mat，而母亲的核型为 47,XX,-12,+fis(12)(p10),+fis(12)(q10)。这是首例报道的染色体 12 着丝粒分裂导致稳定的近端着丝粒染色体，每个染色体都具有一个功能完整的着丝粒。我们的观察表明，染色体 12 的着丝粒分裂可能是产生部分着丝粒和 12p 三体综合征的新机制。
