Article Text

PDF

18q+, the progeny of a balanced translocation t(1;18)mat: case report with necropsy findings.
  1. A Hindi,
  2. D Beneck,
  3. M A Greco,
  4. S R Wolman

    Abstract

    A female infant with additional genetic material on the long arm of chromosome 18 is described. Cytogenetic studies of the infant and her mother showed that the altered region resulted from an unbalanced translocation of part of the long arm of chromosome 1. This chromosomal abnormality has not been reported previously, according to a recent registry of abnormal chromosome patterns. The patient had hydrops fetalis and multiple congenital abnormalities, involving the cardiovascular, respiratory, and skeletal systems, together with unusual facies. External features, radiological findings, and gross and microscopical examination at necropsy are presented and compared with previously reported cases of related but dissimilar chromosomal abnormalities.

    Statistics from Altmetric.com

    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.