Human Genetics

, Volume 110, Issue 4, pp 322–326

Molecular characterization of a ring X chromosome in a male with short stature

  • Jay W. Ellison
  • Mustafa Tekin
  • Karen Sikes
  • Jerry Yankowitz
  • Larry Shapiro
  • Gudrun A. Rappold
  • Kirk E. Neely
Original Investigation

DOI: 10.1007/s00439-002-0685-7

Cite this article as:
Ellison, J.W., Tekin, M., Sikes, K. et al. Hum Genet (2002) 110: 322. doi:10.1007/s00439-002-0685-7
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Abstract.

We report the molecular characterization of a ring X chromosome that was transmitted from a mother to a male who has short stature and minor dysmorphic features. This represents only the second reported ring X chromosome in a male. The ring is derived from breakage within the Xp pseudoautosomal region (PAR) and just proximal to the Xq PAR. The total amount of deleted material is 700–900 kb DNA and includes six known transcribed genes. Interestingly, SHOX, a gene implicated in short stature, is not deleted from the ring chromosome. Possible pathogenetic explanations for the patient’s clinical features include insufficient dosage of deleted genes, a position effect on SHOX expression, and cell death during development because of ring chromosome nondisjunction. The findings are also relevant to observations made of "complete" ring chromosomes.

Copyright information

© Springer-Verlag 2002

Authors and Affiliations

  • Jay W. Ellison
    • 1
  • Mustafa Tekin
    • 2
  • Karen Sikes
    • 4
  • Jerry Yankowitz
    • 5
  • Larry Shapiro
    • 6
  • Gudrun A. Rappold
    • 7
  • Kirk E. Neely
    • 4
  1. 1.Department of Pediatrics, Medical College of Virginia-VCU, Richmond, VirginiaUSA
  2. 2.Department of Human Genetics, Medical College of Virginia-VCU, Richmond, VirginiaUSA
  3. 3.Department of Medical Genetics, Mayo Clinic, 200 First St. SW, Rochester, MN 55905USA
  4. 4.Department of Pediatrics, Stanford University School of Medicine, Stanford, CaliformiaUSA
  5. 5.Department of Obstetrics and Gynecology, University of Iowa Hospitals and Clinics, Iowa City, IowaUSA
  6. 6.Department of Pediatrics, University of California, San FranciscoUSA
  7. 7.Institute of Human Genetics, University of Heidelberg, HeidelbergGermany