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Title: Recurrent involvement of chromosomal region 6q21 in heterotaxy
Authors: Peeters, Hilde ×
Debeer, Philippe
Groenen, Peter
Van Esch, Hilde
Vanderlinden, G
Eyskens, Benedicte
Mertens, L
Gewillig, Marc
Van de Ven, Willem
Fryns, Jean-Pierre
Devriendt, Koenraad #
Issue Date: Sep-2001
Series Title: American Journal of Medical Genetics vol:103 issue:1 pages:44-7
Abstract: We present a patient with heterotaxy and a de novo, apparently balanced reciprocal translocation with breakpoints at 6q21 and 20p13. Another patient with heterotaxy was previously reported with a de novo balanced translocation involving chromosome band 6q21. The breakpoints in both patients on 6q21 were found to be located in the same chromosomal region spanning maximally 2 Mb. We speculate that the two breakpoints lead to the disruption of the function of a single gene, either directly or through long distance effects. Alternatively, the present observation suggests additional heterogeneity in heterotaxy in humans.
ISSN: 0148-7299
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
Laboratory for Genetics of Human Development
Pediatric Cardiology Section (-)
Cardiovascular Developmental Biology
× corresponding author
# (joint) last author

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