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Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3

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Tzschach,  Andreas
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

Hoeltzenbein,  Maria
Max Planck Society;

Hoffmann,  Kirsten
Max Planck Society;

Menzel,  Corinna
Max Planck Society;

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Ropers,  Hans-Hilger
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Citation

Tzschach, A., Hoeltzenbein, M., Hoffmann, K., Menzel, C., Beyer, A., Ocker, V., et al. (2006). Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3. European Journal of Human Genetics: EJHG; the Official Journal of the European Society of Human Genetics, 14(12), 1317-1320. doi:10.1038/sj.ejhg.5201707.


Cite as: https://hdl.handle.net/11858/00-001M-0000-0010-83BE-B
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.