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

Tzschach, A.; Hoeltzenbein, M.; Hoffmann, K.; Menzel, C.; Beyer, A.; Ocker, V.; Wurster, G.; Raynaud, M.; Ropers, H. H.; Kalscheuer, V.; Heilbronner, H.

doi:10.1038/sj.ejhg.5201707

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Journal Article

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

MPS-Authors

Tzschach, A.
Max Planck Society;

Hoeltzenbein, M.
Max Planck Society;

Hoffmann, K.
Max Planck Society;

Menzel, C.
Max Planck Society;

Beyer, A.
Max Planck Society;

Ocker, V.
Max Planck Society;

Wurster, G.
Max Planck Society;

Raynaud, M.
Max Planck Society;

Ropers, H. H.
Max Planck Society;

Kalscheuer, V.
Max Planck Society;

Heilbronner, H.
Max Planck Society;

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http://www.ncbi.nlm.nih.gov/pubmed/16926859
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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. Eur J Hum Genet, 14(12), 1317-20. doi:10.1038/sj.ejhg.5201707.

Cite as: https://hdl.handle.net/21.11116/0000-0002-E004-C

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.