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Accumulation of different congenital heart defects in one pedigree
Author(s) -
Zetterqvist Per
Publication year - 1971
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1971.tb00267.x
Subject(s) - penetrance , expressivity , heterozygote advantage , heart defect , heart disease , genetics , medicine , pediatrics , biology , gene , allele , phenotype
In one kindred nine cases of congenital heart defect of several different types were diagnosed. Confirmation of the diagnoses was achieved at surgery in five cases and at post‐mortem examination in two. One pair of affected sibs born to healthy parents was found in each of three generations. Transmission from parent to child occurred once. The defects might possibly be due to a major gene exerting its effect in the heterozygote condition. This would imply a highly reduced penetrance and extraordinarily wide variation in expressivity.