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- Publisher
- Wiley
- Copyright
- Copyright © 1983 Wiley Subscription Services, Inc., A Wiley Company
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- DOI
- 10.1002/ajmg.1320140418
- pmid
- 6846406
- Publisher site
- See Article on Publisher Site
Abstract
We report a patient with dup(3p) syndrome with holoprosencephaly. This infant is compared with 17 others reported previously with banding studies. In 72% of cases the duplication derived from a mother with a balanced translocation; 78% of affected individuals are males. The most common anomalies are characteristic facial changes, congenital heart defects, and hypoplasia of male genitalia. Holoprosencephaly has not been reported before in the dup(3p) syndrome.
Journal
American Journal of Medical Genetics Part A – Wiley
Published: Apr 1, 1983
Keywords: ; ; ; ;