Cesko I, Hajdú J, Marton T, Tóth-Pál E, Papp C, Papp Z
I. Szülészeti és Np6yógyászati Klinika, Semmelweis Orvostudományi Egyetem, Budapest.
Orv Hetil. 1998 May 3;139(18):1087-9.
The atrioventricular septal defect is usually associated with trisomy 21 and it may be observed in the heterotaxia syndromes. Atrioventricular septal defect may be associated with 8p deletion. There are reported cases of familial atrioventricular septal defect. Atrioventicular septal defect is rarely associated with other chromosomal abnormalities. We are reporting three unusual cases of atrioventricular septal defect that were associated with trisomy 13, 18 and 22. This association may be due to effect of genetic loci on the 13, 18 and 22 chromosome which could play the role in the development and fusion of endocardial cushion and atrioventricular septal defect.
房室间隔缺损通常与21三体综合征相关，也可见于内脏异位综合征。房室间隔缺损可能与8号染色体短臂缺失有关。有家族性房室间隔缺损的病例报道。房室间隔缺损很少与其他染色体异常相关。我们报告了3例不寻常的与13、18和22三体相关的房室间隔缺损病例。这种关联可能是由于13、18和22号染色体上的基因位点的作用，这些基因位点可能在内皮垫的发育和融合以及房室间隔缺损中发挥作用。
