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

Y J Crow; J L Tolmie; K Rippard; L Nairn; A G Wilkinson; T Turner

doi:10.1097/00019605-199710000-00008

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.

Authors

Y J Crow¹, J L Tolmie, K Rippard, L Nairn, A G Wilkinson, T Turner

Affiliation

¹ Department of Medical Genetics, Royal Hospital for Sick Children, Yorkhill Hospitals NHS Trust, Glasgow, UK. ycrow@hgmp.nrc.ac.uk

PMID: 9354844
DOI: 10.1097/00019605-199710000-00008

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.

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*