Related resources
Search for item elsewhere
University researcher(s)
Academic department(s)
Spondylocostal dysostosis associated with a 46, XX,+15,dic(6;15)(q25;q11.2) translocation.
Crow YJ, Tolmie J, Rippard K, Nairn L, Wilkinson A, Turner T
Clin Dysmorphol. 1997;6( 4):347-50.
Access to files
Full-text and supplementary files are not available from Manchester eScholar. Use our list of Related resources to find this item elsewhere. Alternatively, request a copy from the Library's Document supply service.
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.
Keyword(s)
Chromosomes, Human, Pair 15; Chromosomes, Human, Pair 6; Female; Humans; Infant; Karyotyping; Translocation, Genetic; abnormalities: Ribs; abnormalities: Spine; genetics: Dysostoses