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Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3.
- Source :
-
European Journal of Human Genetics . Dec2006, Vol. 14 Issue 12, p1317-1320. 4p. 1 Diagram. - Publication Year :
- 2006
-
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.European Journal of Human Genetics (2006) 14, 1317–1320. doi:10.1038/sj.ejhg.5201707; published online 23 August 2006 [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 10184813
- Volume :
- 14
- Issue :
- 12
- Database :
- Academic Search Index
- Journal :
- European Journal of Human Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 23210967
- Full Text :
- https://doi.org/10.1038/sj.ejhg.5201707