Human Genetics

, Volume 110, Issue 4, pp 322–326

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

Authors

  • Jay W. Ellison
    • Department of Pediatrics, Medical College of Virginia-VCU, Richmond, Virginia
  • Mustafa Tekin
    • Department of Human Genetics, Medical College of Virginia-VCU, Richmond, Virginia
  • Karen Sikes
    • Department of Pediatrics, Stanford University School of Medicine, Stanford, Califormia
  • Jerry Yankowitz
    • Department of Obstetrics and Gynecology, University of Iowa Hospitals and Clinics, Iowa City, Iowa
  • Larry Shapiro
    • Department of Pediatrics, University of California, San Francisco
  • Gudrun A. Rappold
    • Institute of Human Genetics, University of Heidelberg, Heidelberg
  • Kirk E. Neely
    • Department of Pediatrics, Stanford University School of Medicine, Stanford, Califormia
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

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