Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan.
Am J Med Genet A. 2012 Apr;158A(4):707-12. doi: 10.1002/ajmg.a.33943. Epub 2012 Mar 9.
We report on a newborn girl with facial anomalies, a congenital heart defect, severe pre- and postnatal growth retardation, feeding problems, and persistent hyperplastic primary vitreous. Cytogenetic analysis by high resolution GTG banding showed extra chromosomal material on the short arm of one chromosome 1 of the patient, but neither parent. SKY and CGH analysis demonstrated that the patient had a de novo 46,XX, der(1)t(1;6)(p36.3; p22). Compared with previously reported cases of partial trisomy 6p22 syndrome, this patient exhibited a unique condition for this syndrome: persistent hyperplastic primary vitreous (PHPV) with retinal detachment. The human genome database was searched for candidate genes and we propose the following nine genes located in the 6p22→6pter region for their potential contribution to the phenotype of partial trisomy 6p22→pter and persistent hyperplastic primary vitreous (PHPV) with retinal detachment: Forkhead box Q1 (FOXQ1), FOXF2, FOXC1, NRN1, EDN1, ATXN1, DEK oncogene, E2F3, and NRNS1.
我们报告了一例新生儿女孩，其具有面部异常、先天性心脏缺陷、严重的产前和产后生长迟缓、喂养问题和持续性增生性原始玻璃体。高分辨率 GTG 带分析的细胞遗传学分析显示患者的一条 1 号染色体的短臂上存在额外的染色体物质，但既不是父母。SKY 和 CGH 分析表明，患者存在一个新的 46,XX, der(1)t(1;6)(p36.3;p22)。与以前报道的部分 6p22 三体综合征病例相比，该患者表现出该综合征的一种独特情况：持续性增生性原始玻璃体（PHPV）伴视网膜脱离。在人类基因组数据库中搜索候选基因，我们提出了以下位于 6p22→6pter 区域的九个基因，它们可能对部分 6p22→pter 三体和持续性增生性原始玻璃体（PHPV）伴视网膜脱离的表型有潜在贡献：FOXQ1、FOXF2、FOXC1、NRN1、EDN1、ATXN1、DEK 癌基因、E2F3 和 NRNS1。
