Association of the X chromosomal region q11→22 and Klinefelter syndrome |
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Authors: | Shivanand R. Patil James A. Bartley James W. Hanson |
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Affiliation: | Division of Medical Genetics, Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA |
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Abstract: | A male patient with typical Klinefelter syndrome features was found to have a 47, XXq-Y chromosome complement. The X chromosome with the deletion was late-replicating. We suggest that the region q11→22 of the extra X chromosome is important for expression of the Klinefelter phenotype. |
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Keywords: | Klinefelter syndrome X chromosome deletion |
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