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J Med Genet 1999;36:73-76 doi:10.1136/jmg.36.1.73
  • Short report

Duplication of segment 1p21 following paternal insertional translocation, ins(6;1)(q25;p13.3p22.1)

  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.
  • Received 23 January 1998
  • Revised 4 June 1998

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.

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