Duplication of chromosome region 4q28.3-qter in monozygotic twins with discordant phenotypes

Livija Celle, Laura Lee, Natalie Rintoul, Rashmin C. Savani, Wendy Long, Michael T. Mennuti, Ian D. Krantz

Research output: Contribution to journalArticlepeer-review

27 Scopus citations


We describe monozygotic twins with partially discordant phenotypes who were found to have a duplication of chromosome region 4q28.3-qter. The duplicated region of chromosome 4 resulted from an unbalanced segregation of a balanced maternal (4;22)(q28.3;p13) translocation. Duplication of the long arm of chromosome 4 has been described in >60 patients; however, it usually results from the unbalanced segregation of a parental balanced translocation and has an associated monosomy. Twenty cases of dup 4q without an associated monosomy have been reported, and this is the only case of dup 4q28.3-qter. All cases of dup 4q are reviewed, and phenotypic aspects are analyzed. Issues of monozygotic twinning and other birth defects also are adddressed. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)125-140
Number of pages16
JournalAmerican Journal of Medical Genetics
Issue number2
StatePublished - 2000


  • Discordant
  • Duplication 4q28-qter
  • Monozygotic
  • Review
  • Twins

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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