Classical Prader-Willi syndrome with trisomy 15(pter----q12) plus de novo variant 15p11 |
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Authors: | A Smith G Den Dulk A Lipson M Suter |
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Affiliation: | Oliver Latham Laboratory, Department of Health, NSW. |
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Abstract: | We describe a boy with the classical Prader Willi syndrome (PWS), clinically, who had a chromosome abnormality not previously described in PWS. The karyotype was 47,XY,+mar, var(15)(p11). The marker was a fragment of 15 from 15pter----q12 and the variant 15p11 was de novo in origin. Overall, this karyotype contains increased 15 heterochromatin and we discuss alteration in the amount of 15 heterochromatin in PWS. |
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