You are here

Article Text

Article menu
Download PDFPDF
Research Article
A case of partial monosomy 21q22.2 associated with Rieger's syndrome.
  1. F Nielsen,
  2. L Trånebjaerg

    Abstract

    A deleted chromosome 21 is reported in a mentally retarded girl with prominent occiput, high nasal bridge, downward slanting eyes, enophthalmus, atresia of the right lacrimal duct, displaced anal opening, and supernumerary ribs. Cytogenetic investigation of cultured lymphocytes and skin fibroblasts revealed a deletion of the long arm of chromosome 21 at sub-band q22.2 with satellites on both arms. Normal SOD-1 activity confirmed the breakpoint to be distal to band q22.1.

    https://doi.org/10.1136/jmg.21.3.218

    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.