Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation.
Open Access
- 1 April 1992
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 29 (4) , 251-252
- https://doi.org/10.1136/jmg.29.4.251
Abstract
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.Keywords
This publication has 4 references indexed in Scilit:
- A chromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia; case report and etiologic hypothesisClinical Genetics, 1991
- Campomelic syndrome: Manifestations in a 20 week fetus and case history of a 5 year old childAmerican Journal of Medical Genetics, 1989
- The campomelic syndrome: Review, report of 17 cases, and follow‐up on the currently 17‐year‐old boy first reported by Maroteaux et al in 1971American Journal of Medical Genetics, 1983
- CHROMOSOMAL LOCALIZATION OF THE HUMAN PLACENTAL LACTOGEN-GROWTH HORMONE GENE-CLUSTER TO 17Q22-241982