TY - JOUR T1 - Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation. JF - Journal of Medical Genetics JO - J Med Genet SP - 251 LP - 252 DO - 10.1136/jmg.29.4.251 VL - 29 IS - 4 AU - I D Young AU - J M Zuccollo AU - E L Maltby AU - N J Broderick Y1 - 1992/04/01 UR - http://jmg.bmj.com/content/29/4/251.abstract N2 - A phenotypically female fetus with campomelic dysplasia and a de novo reciprocal translocation, 46,XY,t(2;17) (q35;q23-24), is presented. This is the second case of campomelic dysplasia in which a rearrangement involving the long arm of chromosome 17 has been identified, indicating that this is likely to be the site of the campomelic dysplasia locus. ER -