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

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 regi...

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Hauptverfasser: Ellison, Jay W. (VerfasserIn) , Tekin, Mustafa (VerfasserIn) , Sikes, Karen (VerfasserIn) , Yankowitz, Jerry (VerfasserIn) , Shapiro, Lawrence A. (VerfasserIn) , Rappold, Gudrun (VerfasserIn) , Neely, Kirk E. (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 02 March 2002
In: Human genetics
Year: 2002, Jahrgang: 110, Heft: 4, Pages: 322-326
ISSN:1432-1203
DOI:10.1007/s00439-002-0685-7
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1007/s00439-002-0685-7
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Verfasserangaben:Jay W. Ellison, Mustafa Tekin, Karen Sikes, Jerry Yankowitz, Larry Shapiro, Gudrun A. Rappold, Kirk E. Neely

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520 |a 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. 
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