Article Text

Download PDFPDF
Chromosome 18q22.2-->qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects.
  1. S B Dowton,
  2. A V Hing,
  3. V Sheen-Kaniecki,
  4. M S Watson
  1. Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri 63110, USA.


    Multiple vertebral segmentation defects occur in a group of conditions variably associated with anomalies of other organ systems. This report describes a female child in whom a deletion of chromosome 18 (18q22.2-->qter) is associated with congenital anomalies including multiple vertebral segmentation defects resembling sporadic spondylocostal dysplasia. The child also has unilateral renal agenesis and unilateral fibular aplasia. The association of severe multiple vertebral segmentation defects with 18q- in this patient suggests the possibility that a gene important for somite formation or vertebral differentiation maps to this segment of chromosome 18.

    Statistics from

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.