Publication:

A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome (1991)

Author(s): Ireland M, English C, Cross I, Houlsby WT, Burn J

    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.

      • Journal: JOURNAL OF MEDICAL GENETICS, 1991, Vol.28, No.9, pp.639-40
        (Article)
      • Publication type: Article
      • Bibliographic status: Published
        Staff

        Professor Sir John Burn
        Professor of Clinical Genetics