Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You or Your Team.

Learn More →

Holt-Oram syndrome: penetrance of the gene and lack of maternal effect

Holt-Oram syndrome: penetrance of the gene and lack of maternal effect 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Genetics Wiley

Holt-Oram syndrome: penetrance of the gene and lack of maternal effect

Loading next page...
 
/lp/wiley/holt-oram-syndrome-penetrance-of-the-gene-and-lack-of-maternal-effect-gtqRkNnUMz

References (26)

Publisher
Wiley
Copyright
1982 Blackwell Munksgaard
ISSN
0009-9163
eISSN
1399-0004
DOI
10.1111/j.1399-0004.1982.tb00743.x
Publisher site
See Article on Publisher Site

Abstract

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.

Journal

Clinical GeneticsWiley

Published: Feb 1, 1982

Keywords: Hand-heart; Holt-Oram syndrome

There are no references for this article.