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

Pediatric Cardiology
J H LuH P Chien

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.

Citations

Jul 16, 2003·Cold Spring Harbor Symposia on Quantitative Biology·F VitelliA Baldini
Dec 15, 2010·Journal of Perinatal Medicine·Sara SilvaIsaac Blickstein
Feb 2, 2011·Advanced Drug Delivery Reviews·Jonathan T ButcherLaura A Hockaday
Jul 29, 2006·Pediatric Clinics of North America·James W Verbsky, William J Grossman
Apr 14, 2009·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Geoffrey Machin
Jul 29, 2011·Human Mutation·Tingwei GuoUNKNOWN International Chromosome 22q11.2 Consortium
Jun 7, 2015·Journal of Theoretical Biology·Benjamin J BinderJoshua V Ross
Dec 31, 2003·American Journal of Medical Genetics. Part a·Anita RauchMichael Weyand
Nov 1, 2018·American Journal of Medical Genetics. Part a·Bernice E MorrowPeter J Scambler
Jan 23, 2003·Nature Medicine·Ingeborg StalmansPeter Carmeliet
Nov 19, 2002·Current Opinion in Pediatrics·Elena Perez, Kathleen E Sullivan
Jan 11, 2019·Human Genetics·Anelisa Gollo DantasMaria Isabel Melaragno

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.