Additive congenital anomaly patterns.
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.
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Department of Human Genetics and Teratology, World Health Organization Collaborating Centre for the Community Control of Hereditary Diseases, National Institute of Hygiene, Budapest, Hungary.
D000015:Abnormalities, Multiple / Q000235:genetics*; D005260:Female; D006801:Humans; D006814:Hungary; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree