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 A, Hoeltzenbein M, Hoffmann K, Menzel C, Beyer A, Ocker V, Wurster G, Raynaud M, Ropers HH, Kalscheuer V, and Heilbronner H
- Subjects
- Child, Preschool, Female, Fetal Heart diagnostic imaging, Humans, Radiography, Chromosomes, Human, Pair 1, Chromosomes, Human, X, Fetal Heart abnormalities, Heart Diseases genetics, Homeodomain Proteins genetics, Transcription Factors genetics, Translocation, Genetic genetics
- 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.
- Published
- 2006
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