Classical Prader-Willi syndrome with trisomy 15 (pter----q12) plus de novo variant 15p11
Smith, A.; Den Dulk, G.; Lipson, A.; Suter, M.
Annales de Genetique 32(1): 39-42
1989
ISSN/ISBN: 0003-3995 PMID: 2751247 Document Number: 327013
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.