46,XY/48,XXY,+8 in a male with clinical and dermatoglyphic features of mosaic trisomy 8 syndrome |
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| Authors: | Pamela A. Casey Constance E. Clark Henry R. Cowell |
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| Affiliation: | Alfred I. duPont Institute, Wilmington, Delaware, U.S.A |
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| Abstract: | A 15-year-old male was referred for management of scoliosis secondary to congenital vertebral anomalies. Cytogenetic analysis was performed because of multiple congenital malformations. The patient was found to have a mosaic 46,XY/48,XXY, + 8 chromosome complement with the characteristic clinical and dermatoglyphic features of mosaic trisomy 8 syndrome. |
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| Keywords: | Chromosome 8 dermatoglyphics mosaicism sex chromosome abnormalities vertebral anom |
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