Monozygotic twins with chromosome 22q11 microdeletion and discordant phenotypes in cardiovascular patterning

J. H. Lu, M. Y. Chung, B. Hwang, H. P. Chien

Research output: Contribution to journalArticlepeer-review

17 Citations (Scopus)

Abstract

Monozygotic twins with chromosome 22q11 microdeletions offer an ideal situation to observe the association of microdeletion and disrupted cardiovascular patterning. We report monozygotic twins concordant for 22q11.2 microdeletion but discordant for cardiovascular patterning. Both twins showed identical intracardiac defects including tetralogy of Fallot with pulmonary atresia. Nevertheless, their great vessel patternings were variable. These twins show that the mispatterning of the great vessels may not correlate with intracardiac morphogenesis. The discordant development of the great vessels, especially in the pulmonary vascular system, has clinical significance for prognosis. The phenotypic variability of cardiovascular anomalies seen in 22q11 microdeletion cannot be explained on the basis of genotypic difference.

Original languageEnglish
Pages (from-to)260-263
Number of pages4
JournalPediatric Cardiology
Volume22
Issue number3
DOIs
Publication statusPublished - 2001
Externally publishedYes

Keywords

  • Cardiovascular patterning
  • Chromosome 22q11 microdeletion

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Cardiology and Cardiovascular Medicine

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