Marino B, Reale A, Giannotti A, Digilio M C, Dallapiccola B
Department of Pediatric Cardiology and Genetics, Bambino Gesù Hospital, Rome, Italy.
Am J Med Genet. 1992 Feb 15;42(4):424-7. doi: 10.1002/ajmg.1320420404.
We describe a patient with partial deletion of the short arm of chromosome 8 with an atrioventricular canal. This type of congenital heart defect was found in 4 of the 7 previously reported del (8p) children with a congenital heart defect in which the cardiac assessment was complete. The prevalence of an atrioventricular canal in this aneuploidy is high and suggests a nonrandom association of the 2 anomalies.
我们描述了一名患有8号染色体短臂部分缺失并伴有房室管畸形的患者。在先前报道的7例患有先天性心脏病且心脏评估完整的del(8p)儿童中,有4例发现了这种类型的先天性心脏缺陷。在这种非整倍体中,房室管畸形的患病率很高,提示这两种异常之间存在非随机关联。