Inverted tandem duplication generates a duplication deficiency of chromosome 8p

  1. F. J. Dill1,
  2. M. Schertzer1,
  3. J. Sandercock1,
  4. B. Tischler2,
  5. S. Wood1,*

Article first published online: 28 JUN 2008

DOI: 10.1111/j.1399-0004.1987.tb03335.x

Issue

Clinical Genetics

Clinical Genetics

Volume 32, Issue 2, pages 109–113, August 1987

Additional Information

How to Cite

Dill, F. J., Schertzer, M., Sandercock, J., Tischler, B. and Wood, S. (1987), Inverted tandem duplication generates a duplication deficiency of chromosome 8p. Clinical Genetics, 32: 109–113. doi: 10.1111/j.1399-0004.1987.tb03335.x

Author Information

  1. 1

    Department of Medical Genetics, University of British Columbia, Vancouver

  2. 2

    Woodlands, New Westminster, B.C., Canada, University of British Columbia, Vancouver

* Dr. Stephen Wood Department of Medical Genetics University of British Columbia 216–6174 University Boulevard Vancouver, B.C. V6T 1W5 Canada

Publication History

  1. Issue published online: 28 JUN 2008
  2. Article first published online: 28 JUN 2008
  3. Received 2 February; accepted for publication 29 March 1987

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Keywords:

  • duplication;
  • 8p monosomy;
  • 8p trisomy;
  • insertional;
  • mirror;
  • tandem

An adult female with severe mental retardation and dysmorphic features is described. A de novo chromosomal aberration involving 8p was found. The karyotype was 46, XX, inv dup (8) (pl2→p23.1). Dosage studies with the DNA probe D8S7, which is located at 8p23→8pter, showed that the patient was monosomic for this marker. Thus the de novo rearrangement generated a duplication-deficiency chromosome. The possible mechanisms of formation of this abnormal chromosome are discussed.

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