TY - JOUR T1 - A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome. JF - Journal of Medical Genetics JO - J Med Genet SP - 639 LP - 640 DO - 10.1136/jmg.28.9.639 VL - 28 IS - 9 AU - M Ireland AU - C English AU - I Cross AU - W T Houlsby AU - J Burn Y1 - 1991/09/01 UR - http://jmg.bmj.com/content/28/9/639.abstract N2 - 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. ER -