Article Text

Download PDFPDF

Clinical outcomes of adjacent 1 segregation in a familial translocation t(8;18)(p21.3;p11.23).
  1. A E Cockwell,
  2. R S James,
  3. I E Moore,
  4. E Hatchwell,
  5. J A Crolla
  1. Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK.


    We report a reciprocal translocation t(8;18)(p21.3;p11.23) in which both unbalanced products of adjacent 1 segregation were observed within a family. The proband was originally referred because of short stature and a webbed neck, but further investigations showed that she had mental retardation and a congenital heart defect, and had inherited an unbalanced form of the maternal translocation, 46, XX,der(8)t(8;18)mat. The proband's sister spontaneously aborted an 11 week fetus with multiple major system malformations, which was found to have a 46,XY, der(18)t(8;18)mat karyotype. The phenotypic findings of the affected subjects are discussed.

    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.