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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| Main Authors: | , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
02 March 2002
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| In: |
Human genetics
Year: 2002, Volume: 110, Issue: 4, Pages: 322-326 |
| ISSN: | 1432-1203 |
| DOI: | 10.1007/s00439-002-0685-7 |
| Online Access: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1007/s00439-002-0685-7
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| Author Notes: | Jay W. Ellison, Mustafa Tekin, Karen Sikes, Jerry Yankowitz, Larry Shapiro, Gudrun A. Rappold, Kirk E. Neely |
| Summary: | 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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| Item Description: | Gesehen am 07.04.2021 |
| Physical Description: | Online Resource |
| ISSN: | 1432-1203 |
| DOI: | 10.1007/s00439-002-0685-7 |