1. Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3.
- Author
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Tzschach, Andreas, Hoeltzenbein, Maria, Hoffmann, Kirsten, Menzel, Corinna, Beyer, Alexander, Ocker, Volker, Wurster, Goetz, Raynaud, Martine, Ropers, Hans-Hilger, Kalscheuer, Vera, and Heilbronner, Helmut
- Subjects
CARDIAC arrest ,CONGENITAL heart disease ,CHROMOSOMAL translocation ,CHROMOSOMES ,HUMAN genetics ,GENETIC mutation - Abstract
We report on a 2-year-old girl with situs ambiguus comprising right-sided stomach and spleen, left-sided liver and complex cardiac defect. Psychomotor development of this patient was normal, and no other major abnormalities were present. Chromosome analysis revealed a de novo balanced chromosome translocation t(X;1)(q26;p13.1). Molecular cytogenetic investigations identified a breakpoint spanning BAC clone on the X-chromosome containing the ZIC3 gene. Mutations in ZIC3 are associated with situs ambiguus and cardiac defects predominantly in males. This is the first report of a live born girl with an X-autosome translocation involving the ZIC3 region.European Journal of Human Genetics (2006) 14, 1317–1320. doi:10.1038/sj.ejhg.5201707; published online 23 August 2006 [ABSTRACT FROM AUTHOR]
- Published
- 2006
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