Holt‐Oram syndrome in four half‐siblings with unaffected parents: brief clinical report

Research output: Contribution to journalResearch articleContributedpeer-review

Contributors

  • I. Braulke - , University of Göttingen (Author)
  • S. Herzog - , University of Göttingen (Author)
  • U. Thies - , University of Göttingen (Author)
  • B. Zoll - , University of Göttingen (Author)

Abstract

The Holt‐Oram syndrome was diagnosed in four offspring of three mothers and the same unaffected father. One additional child lacked the characteristic clinical features of the Holt‐Oram syndrome. In contrast to the general autosomal dominant inheritance with complete penetrance, our observation suggests a paternal mutation, resulting in mosaicism, probably restricted to the germline.

Details

Original languageEnglish
Pages (from-to)241-244
Number of pages4
JournalClinical Genetics
Volume39
Issue number4
Publication statusPublished - Apr 1991
Peer-reviewedYes
Externally publishedYes

External IDs

PubMed 2070544

Keywords

Keywords

  • germline mutation, heart defect, Holt‐Oram, skeletal malformation, syndrome