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

Jay W. Ellison, Mustafa Tekin, Karen Salvasen Sikes, Jerry Yankowitz, Larry Shapiro, Gudrun A. Rappold, E. Kirk Neely

Research output: Contribution to journalArticle

1 Citation (Scopus)

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.

Original languageEnglish
Pages (from-to)322-326
Number of pages5
JournalHuman Genetics
Volume110
Issue number4
DOIs
StatePublished - Apr 1 2002
Externally publishedYes

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Ring Chromosomes
X Chromosome
Gene Order
Genes
Cell Death
Mothers
DNA

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Ellison, J. W., Tekin, M., Sikes, K. S., Yankowitz, J., Shapiro, L., Rappold, G. A., & Neely, E. K. (2002). Molecular characterization of a ring X chromosome in a male with short stature. Human Genetics, 110(4), 322-326. https://doi.org/10.1007/s00439-002-0685-7

Molecular characterization of a ring X chromosome in a male with short stature. / Ellison, Jay W.; Tekin, Mustafa; Sikes, Karen Salvasen; Yankowitz, Jerry; Shapiro, Larry; Rappold, Gudrun A.; Neely, E. Kirk.

In: Human Genetics, Vol. 110, No. 4, 01.04.2002, p. 322-326.

Research output: Contribution to journalArticle

Ellison, JW, Tekin, M, Sikes, KS, Yankowitz, J, Shapiro, L, Rappold, GA & Neely, EK 2002, 'Molecular characterization of a ring X chromosome in a male with short stature', Human Genetics, vol. 110, no. 4, pp. 322-326. https://doi.org/10.1007/s00439-002-0685-7
Ellison JW, Tekin M, Sikes KS, Yankowitz J, Shapiro L, Rappold GA et al. Molecular characterization of a ring X chromosome in a male with short stature. Human Genetics. 2002 Apr 1;110(4):322-326. https://doi.org/10.1007/s00439-002-0685-7
Ellison, Jay W. ; Tekin, Mustafa ; Sikes, Karen Salvasen ; Yankowitz, Jerry ; Shapiro, Larry ; Rappold, Gudrun A. ; Neely, E. Kirk. / Molecular characterization of a ring X chromosome in a male with short stature. In: Human Genetics. 2002 ; Vol. 110, No. 4. pp. 322-326.
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