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

Yanick Crow, Y. J. Crow, J. L. Tolmie, K. Rippard, L. Nairn, A. G. Wilkinson, T. Turner

    Research output: Contribution to journalArticlepeer-review

    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.
    Original languageEnglish
    Pages (from-to)347-350
    Number of pages3
    JournalClinical dysmorphology
    Volume6
    Issue number4
    DOIs
    Publication statusPublished - 1997

    Keywords

    • Chromosomal translocation
    • Spondylocostal dysostosis

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