Lookup NU author(s): Professor Sir John Burn
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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.
Author(s): Ireland M, English C, Cross I, Houlsby WT, Burn J
Publication type: Article
Publication status: Published
Journal: Journal of Medical Genetics