Czeizel A
Department of Human Genetics and Teratology, World Health Organization Collaborating Centre for the Community Control of Hereditary Diseases, National Institute of Hygiene, Budapest, Hungary.
Am J Med Genet. 1988 Apr;29(4):727-38. doi: 10.1002/ajmg.1320290402.
A family study was conducted on 1,038 index patients with unidentified multiple congenital abnormality (MCA) patterns in the population-based material of the Hungarian Congenital Malformation Registry (HCMR). Congenital abnormalities (CAs) were detected in 5.1% of fathers and in 4.2% of mothers, respectively. Two fathers had an MCA pattern similar to that in their affected child. One component CA of multimalformed index children occurred in 55.1% of fathers and 52.3% of mothers. Thus, in more than half of affected parent-child pairs, there may be a causal connection between the observed anomalies. The combination of CAs of different parental origin in index patients is called "additive CA pattern." This group of patients may represent about 5% of unidentified MCA patterns and about 50% of affected parent-child pairs.
在匈牙利先天性畸形登记处（HCMR）基于人群的资料中，对1038名患有不明多重先天性异常（MCA）模式的索引患者进行了一项家系研究。分别在5.1%的父亲和4.2%的母亲中检测到先天性异常（CA）。两名父亲具有与其患病子女相似的MCA模式。多畸形索引儿童的一个组成CA出现在55.1%的父亲和52.3%的母亲中。因此，在超过一半的受影响亲子对中，观察到的异常之间可能存在因果关系。索引患者中不同亲本来源的CA组合称为“累加CA模式”。这组患者可能占不明MCA模式的5%左右，占受影响亲子对的50%左右。
