Spondylocostal dysostosis associated with a 46, XX,+15,dic(6;15)(q25;q11.2) translocation

Clin Dysmorphol. 1997 Oct;6(4):347-50. doi: 10.1097/00019605-199710000-00008.


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.

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human, Pair 15*
  • Chromosomes, Human, Pair 6*
  • Dysostoses / genetics*
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Ribs / abnormalities*
  • Spine / abnormalities*
  • Translocation, Genetic*