Article Text

PDF

Currarino triad with a terminal deletion 7q35-->qter.
  1. M Masuno,
  2. K Imaizumi,
  3. N Aida,
  4. Y Tanaka,
  5. K Sekido,
  6. Y Ohhama,
  7. T Nishi,
  8. Y Kuroki
  1. Division of Medical Genetics, Kanagawa Children's Medical Centre, Yokohama, Japan.

    Abstract

    We describe a de novo terminal deletion of the long arm of chromosome 7 in a 5 year old girl with the Currarino triad, characterised by congenital anorectal stenosis, a sacral defect, and a presacral mass. Recently, this autosomal dominant trait has been shown to be linked to 7q36, the same region as holoprosencephaly (HPE3). The cytogenetic findings in the present patient with the Currarino triad provided further evidence that a gene(s) for the Currarino triad is located in the 7 q terminal segment.

    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.