Article Text

Download PDFPDF
Down's/Turner's mosaicism. Double aneuploidy as a rare cause of missed prenatal diagnosis of chromosomal abnormality.
  1. R MacFaul,
  2. T Turner,
  3. M K Mason


    Two babies with Down's/Turner's mosaic karyotype are reported. In each, because of advanced maternal age, chromosomal analysis had been carried out on the fluid obtained by amniocentesis in early pregnancy. Only the 46,X+ 21 cell line grew in the specimens and the extra 21 chromosome was wrongly identified as a Y chromosome, so that the fetus was thought to have a normal male karyotype, 46,XY. At birth both babies were phenotypically female with features predominantly of Down's syndrome and the correct karyotype was then identified. Twenty cases of this rare chromosomal abnormality are reviewed and one other living child who had been similarly wrongly diagnosed is reported.

    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.