Spondylocostal dysostosis associated with a 46,XX,+15,dic(6;15)(q25;qll.2) translocation

Abstract

We describe a female neonate with spondylocostal dysostosis and a translocation resulting in monosomy for the region 6q25-->qter and trisomy for the region 15q11.1-->pter. The finding of a Mendelian disorder with a chromosomal abnormality may help in the localization of the gene(s) involved in this disease.