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 journalArticle

23 Citations (Scopus)

Abstract

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
Volume94
Issue number2
DOIs
StatePublished - 2000

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Chromosome Duplication
Monosomy
Chromosomes, Human, Pair 4
Monozygotic Twins
Monozygotic Twinning
Phenotype
Mothers

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Duplication of chromosome region 4q28.3-qter in monozygotic twins with discordant phenotypes. / Celle, Livija; Lee, Laura; Rintoul, Natalie; Savani, Rashmin C.; Long, Wendy; Mennuti, Michael T.; Krantz, Ian D.

In: American Journal of Medical Genetics, Vol. 94, No. 2, 2000, p. 125-140.

Research output: Contribution to journalArticle

Celle, Livija ; Lee, Laura ; Rintoul, Natalie ; Savani, Rashmin C. ; Long, Wendy ; Mennuti, Michael T. ; Krantz, Ian D. / Duplication of chromosome region 4q28.3-qter in monozygotic twins with discordant phenotypes. In: American Journal of Medical Genetics. 2000 ; Vol. 94, No. 2. pp. 125-140.
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