Research Article

Direct duplication of 8p21.3→p23.1: A cytogenetic anomaly associated with developmental delay without consistent clinical features

  1. Yao-Shan Fan1,*,
  2. Victoria M. Siu1,
  3. Jack H. Jung1,
  4. S.A. Farrell2,
  5. Gilbert B. Côté3

Article first published online: 17 AUG 2001

DOI: 10.1002/ajmg.1534

Issue

American Journal of Medical Genetics

American Journal of Medical Genetics

Volume 103, Issue 3, pages 231–234, 15 October 2001

Additional Information

How to Cite

Fan, Y.-S., Siu, V. M., Jung, J. H., Farrell, S. and Côté, G. B. (2001), Direct duplication of 8p21.3→p23.1: A cytogenetic anomaly associated with developmental delay without consistent clinical features. American Journal of Medical Genetics, 103: 231–234. doi: 10.1002/ajmg.1534

Author Information

  1. 1

    London Health Sciences Centre and University of Western Ontario, London, Ontario, Canada

  2. 2

    Credit Valley Hospital, Mississauga, Ontario, Canada

  3. 3

    Sudbury Regional Hospital, Sudbury, Ontario, Canada

*Cytogenetics Division, London Health Sciences Centre, 375 South Street, HSR Building, Room 33, London, Ontario N6A 4G5, Canada.

Publication History

  1. Issue published online: 25 SEP 2001
  2. Article first published online: 17 AUG 2001
  3. Manuscript Accepted: 1 JUN 2001
  4. Manuscript Received: 4 DEC 2000

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Keywords:

  • direct duplication of 8p;
  • chromosome 8;
  • FISH;
  • developmental delay;
  • mental retardation;
  • chromosome abnormality

Abstract

We report six cases in two families and a sporadic case with a direct duplication of region 8p21.3→23.1. In one family, the duplication started in the mother and was transmitted to one son and one daughter. In the second family, the father was mosaic for the anomaly that was transmitted to his two daughters. The cytogenetic anomaly was initially described as an 8p+ with banding analysis and then delineated with fluorescence in situ hybridization (FISH) using whole-chromosome 8 painting, 8p specific painting, and 8p or 8p/8q subtelomeric probes. Deletion was not detected in the subtelomeric region of the abnormal chromosome 8 examined in one family and in the sporadic case. The phenotypic picture varies from normal to moderate mental retardation in the affected individuals. No consistent minor anomalies or congenital defects were observed among these cases. After comparing the chromosome region involved in our cases with those in others having direct or inverted duplications of 8p, it is thought that the segment 8p21.1→21.3 might be the critical region for an 8p duplication syndrome. The parental origin of the duplication does not seem to impact its clinical significance. © 2001 Wiley-Liss, Inc.

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