VICTOR A. MCKUSICK, M.D., F.A.C.P.
Some misconceptions1 about genetic aspects of medicine are so common that they merit specific comment and correction.
Misconception 1. Congenital is synonymous with genetic.
Criticism: Congenital merely means present at birth. It has no necessary etiological connotations. Some genetic disorders are not congenital in the usual sense of the word, and many congenital malformations do not have a predominantly genetic cause. For example, Huntington's chorea is genetic but not congenital; rubella embryopathy is congenital but not genetic.
Misconception 2. If a disorder is inherited, a chromosome analysis will show abnormality.
Criticism: Most mendelian disorders have no chromosome abnormality demonstrable with
MCKUSICK VA. Fourteen Genetic Misconceptions. Ann Intern Med. ;75:642–643. doi: 10.7326/0003-4819-75-4-642
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Published: Ann Intern Med. 1971;75(4):642-643.
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