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.
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Acknowledgements
We thank the parents of the patient for their support and Petra Viertel, Hannelore Madle and Susanne Freier for technical assistance. We gratefully acknowledge support from the German National Genome Research Network (NGFN, project number 01GR0105).
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Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/
Genome Browser, http://www.genome.ucsc.edu/cgi-bin/hgGateway
Whitehead Institute, http://www-genome.wi.mit.edu/cgi-bin/contig/phys_map
Supplementary Information accompanies the paper on European Journal of Human Genetics website (http://www.nature.com/ejhg)
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Tzschach, A., Hoeltzenbein, M., Hoffmann, K. et al. 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, 1317–1320 (2006). https://doi.org/10.1038/sj.ejhg.5201707
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DOI: https://doi.org/10.1038/sj.ejhg.5201707
