A maternally inherited 828 kb microdeletion of 2q37.3 manifested in a 3-week-old premature boy as left juxtaposition of the atrial appendages associated with tricuspid atresia,double outlet infundibulum,subvalvar pulm...A maternally inherited 828 kb microdeletion of 2q37.3 manifested in a 3-week-old premature boy as left juxtaposition of the atrial appendages associated with tricuspid atresia,double outlet infundibulum,subvalvar pulmonary atresia,large secundum atrial septal defect,and right aortic arch with mirror-image branching,consistent with developmental arrest early in heart looping.To the best of our knowledge,no previous 2q37 deletion syndrome has been reported with such a severe cardiac dysmorphology.Hence,this case adds to the cardiac phenotypes identified in 2q37 deletion syndrome.展开更多
报告1例毛囊漏斗部肿瘤(tumor of the follicular infundibulum,TFI)。患者女,76岁。因右侧内眦下方丘疹2年余入院。患者约2年余前右侧内眦下出现一肤色丘疹,近2个月逐渐增大,颜色加深呈黑褐色,伴瘙痒。皮损组织病理检查:真皮浅层可见...报告1例毛囊漏斗部肿瘤(tumor of the follicular infundibulum,TFI)。患者女,76岁。因右侧内眦下方丘疹2年余入院。患者约2年余前右侧内眦下出现一肤色丘疹,近2个月逐渐增大,颜色加深呈黑褐色,伴瘙痒。皮损组织病理检查:真皮浅层可见上皮样细胞构成的细胞团块,呈水平方向生长,与表皮及毛囊相连,周围细胞呈栅栏状排列。诊断:TFI。展开更多
文摘A maternally inherited 828 kb microdeletion of 2q37.3 manifested in a 3-week-old premature boy as left juxtaposition of the atrial appendages associated with tricuspid atresia,double outlet infundibulum,subvalvar pulmonary atresia,large secundum atrial septal defect,and right aortic arch with mirror-image branching,consistent with developmental arrest early in heart looping.To the best of our knowledge,no previous 2q37 deletion syndrome has been reported with such a severe cardiac dysmorphology.Hence,this case adds to the cardiac phenotypes identified in 2q37 deletion syndrome.
文摘报告1例毛囊漏斗部肿瘤(tumor of the follicular infundibulum,TFI)。患者女,76岁。因右侧内眦下方丘疹2年余入院。患者约2年余前右侧内眦下出现一肤色丘疹,近2个月逐渐增大,颜色加深呈黑褐色,伴瘙痒。皮损组织病理检查:真皮浅层可见上皮样细胞构成的细胞团块,呈水平方向生长,与表皮及毛囊相连,周围细胞呈栅栏状排列。诊断:TFI。
