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Holt‐Oram syndrome: penetrance of the gene and lack of maternal effect
Author(s) -
Gladstone Igor,
Sybert Virginia P.
Publication year - 1982
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.1399-0004.1982.tb00743.x
Subject(s) - penetrance , variable expression , offspring , genetics , medicine , gene , biology , phenotype , pregnancy
Holt‐Oram syndrome is an autosomal dominant disorder with variable expression. From a review of published pedigree data and of a family reported here, we have found that penetrance is 100 % if appropriate studies, including wrist radiographs, are performed. There does not appear to be a significant maternal effect on the severity of expression in affected offspring.