Article Text

Download PDFPDF

Duplication of segment 1p21 following paternal insertional translocation, ins(6;1)(q25;p13.3p22.1)
Free
  1. Algirdas Utkusa,
  2. Irina Sorokinaa,
  3. Vaidutis Kucinskasa,
  4. Benno Röthlisbergerb,
  5. Damina Balmerb,
  6. Lukrecija Brecevicb,
  7. Albert Schinzelb
  1. aHuman Genetics Center, University of Vilnius, Santariskiu 2, LT-2021 Vilnius, Lithuania, bInstitute of Medical Genetics, University of Zurich, Rämistrasse 74, CH-8001 Zurich, Switzerland
  1. Professor Schinzel.

Abstract

A moderately mentally retarded 3 year old boy showed minor anomalies including a prominent forehead and flat occiput, exophthalmos, large and prominent ears, high arched palate, umbilical hernia, sacral dimple, and irregular position of the toes. Cardiac sonography disclosed a chorda running through the left ventricle. Cytogenetic investigation of the family showed a balanced insertional translocation of segment 1p13→p22 into distal 6q in the father which had led, through unbalanced segregation, to duplication of 1p13.3→p22.1 in the proband. Familial duplication of such a small interstitial segment of 1p has not been reported previously, and the paucity of abnormal physical findings in the proband compared to previous patients with a similar aberration is remarkable.

  • chromosome duplication 1p
  • dual colour FISH
  • unbalanced insertional translocation
View Full Text

Statistics from Altmetric.com

Footnotes

    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.