An Irish three-generation family of Cornelia de Lange syndrome displaying autosomal dominant inheritance

V. McConnell, T. Brown, Patrick Morrison

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

The existence of familial de Lange syndrome has been documented in sibs and in parent-child families, but the inheritance pattern continues to be the cause of much debate. We describe a classically affected neonate with de Lange syndrome, an affected mother and probably affected maternal grandmother. These cases show evidence for a dominantly inherited syndrome with a de Lange phenotype.
Original languageEnglish
Pages (from-to)241-244
Number of pages4
JournalCLINICAL DYSMORPHOLOGY
Volume12
Issue number4
DOIs
Publication statusPublished - Oct 2003

ASJC Scopus subject areas

  • Anatomy
  • Genetics(clinical)
  • Pediatrics, Perinatology, and Child Health

Fingerprint Dive into the research topics of 'An Irish three-generation family of Cornelia de Lange syndrome displaying autosomal dominant inheritance'. Together they form a unique fingerprint.

Cite this