PT - JOURNAL ARTICLE AU - I D Young AU - J M Zuccollo AU - E L Maltby AU - N J Broderick TI - Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation. AID - 10.1136/jmg.29.4.251 DP - 1992 Apr 01 TA - Journal of Medical Genetics PG - 251--252 VI - 29 IP - 4 4099 - http://jmg.bmj.com/content/29/4/251.short 4100 - http://jmg.bmj.com/content/29/4/251.full SO - J Med Genet1992 Apr 01; 29 AB - 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.