Article Text

Download PDFPDF
Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging.
  1. S J Edwards,
  2. A Fowlie,
  3. M P Cust,
  4. D T Liu,
  5. I D Young,
  6. M J Dixon
  1. School of Biological Stlences, University of Manchester, UK.


    Treacher Collins syndrome is an autosomal dominant disorder of facial development, the features of which include conductive hearing loss and cleft palate. In the current investigation, linkage analysis has been used to make first trimester diagnostic predictions in a pregnancy at high risk of producing an affected child. The results of this analysis predicted that the child would be affected. As predictions of the severity of the disease were not possible, the pregnancy was also assessed by ultrasound imaging. This confirmed the affected diagnosis and predicted that the child would be severely affected.

    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.