Lee-Jones Lisa, Williams Tom, Little Elizabeth, Sampson Julian
Tumour Molecular Genetics Group, Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, Wales, United Kingdom.
Am J Med Genet A. 2004 Jul 1;128A(1):78-84. doi: 10.1002/ajmg.a.30076.
We report a patient with trisomy X and a supernumerary marker chromosome. The marker chromosome was characterized by comparative genomic hybridization and shown to be derived from chromosome 14, resulting in trisomy for 14pter --> q21. The karyotype was thus redefined as 48,XXX,+mar.rev ish enh(14pterq21). The patient presented with facial dysmorphism and a high-pitched cry, exhibited severe developmental delay, and developed an aggressive ovarian immature teratoma. In this paper, we also review reports of 11 other patients with constitutional trisomy of the same chromosomal region. Previous studies have identified somatic gains of chromosome 14 in ovarian germ cell tumors. We propose that the constitutional gain of chromosomal 14 material may have predisposed to the development of this tumor.
我们报告了一名患有X三体综合征和一条额外标记染色体的患者。通过比较基因组杂交对该标记染色体进行了特征分析，结果显示其源自14号染色体，导致14号染色体短臂末端至q21区域三体化。因此，核型重新定义为48,XXX,+mar.rev ish enh(14pterq21)。该患者表现出面部畸形和高音调哭声，存在严重发育迟缓，并发生了侵袭性卵巢未成熟畸胎瘤。在本文中，我们还回顾了其他11例同一染色体区域构成性三体患者的报告。先前的研究已确定卵巢生殖细胞肿瘤中存在14号染色体的体细胞性增加。我们提出，14号染色体物质的构成性增加可能易患此肿瘤。
