Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota 55455, USA.
Am J Med Genet A. 2011 Nov;155A(11):2775-83. doi: 10.1002/ajmg.a.34232. Epub 2011 Sep 19.
More than 100 cases of deletions that span 11p13-11p14 resulting in WAGR syndrome have been reported in the literature. In contrast, reports of duplications spanning this region are extremely rare. We here report on a deletion of 11p13-11p14 identified in a neonate with severe congenital anomalies including genitourinary abnormalities and aniridia, and the reciprocal duplication identified in his healthy older sibling. Both were derived from a paternal balanced insertion of the 11p region into 18q. The deletion and duplication were characterized by G-banding, FISH and array CGH, and are estimated to include approximately 5.5-5.8 Mb. This single family report highlights the mild phenotypes that can be associated with duplications of chromosomal regions, even those that are larger than 5 Mb and harbor known disease-related genes, and highlights the impact of identifying balanced carrier status in a parent for accurate genetic counseling.
已有超过 100 例文献报道的跨越 11p13-11p14 的缺失导致 WAGR 综合征。相比之下，跨越该区域的重复报告极为罕见。我们在此报告了一名新生儿的 11p13-11p14 缺失，该新生儿存在严重的先天畸形，包括泌尿生殖异常和无虹膜，以及其健康的年长兄弟姐妹的 11p 区域到 18q 的反向重复插入。两者均源自父亲的 11p 区域到 18q 的平衡插入。缺失和重复通过 G 带、FISH 和阵列 CGH 进行了特征描述，估计包括大约 5.5-5.8Mb。这单一家系报告突出了与染色体区域重复相关的轻度表型，即使是那些大于 5Mb 且含有已知与疾病相关的基因的区域，也突出了识别父母的平衡携带者状态对准确遗传咨询的影响。
