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  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., 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.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-83BE-B Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-83BF-9
Genre: Journal Article
Alternative Title : Eur. J. Hum. Genet.

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 Creators:
Tzschach, Andreas1, Author              
Hoeltzenbein, Maria2, Author
Hoffmann, Kirsten2, Author
Menzel, Corinna2, Author
Beyer, Alexander, Author
Ocker, Volker, Author
Wurster, Goetz, Author
Raynaud, Martine, Author
Ropers, Hans-Hilger1, Author              
Kalscheuer, Vear M., Author
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Max Planck Society, ou_persistent13              

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Free keywords: ZIC3, situs ambiguus, heterotaxy, congenital cardiac defect, balanced chromosome translocation
 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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Language(s): eng - English
 Dates: 2006-08-23
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 308507
DOI: 10.1038/sj.ejhg.5201707
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Title: European Journal of Human Genetics : EJHG ; the Official Journal of the European Society of Human Genetics
  Alternative Title : Eur. J. Hum. Genet.
Source Genre: Journal
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Pages: - Volume / Issue: 14 (12) Sequence Number: - Start / End Page: 1317 - 1320 Identifier: ISSN: 1018-4813