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 journalArticlepeer-review

    2 Scopus citations


    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
    Issue number4
    StatePublished - Apr 2002


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