A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome. |
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| Authors: | M Ireland C English I Cross W T Houlsby J Burn |
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| Affiliation: | Department of Human Genetics, University of Newcastle upon Tyne. |
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| Abstract: | A female infant with Cornelia de Lange syndrome and severe limb reduction defects is described. Chromosome analysis showed a de novo translocation with breakpoints at 3q26.3 and 17q23.1. This is the first reported case of a de novo translocation associated with this syndrome. |
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