title: Classical Prader-Willi syndrome with trisomy 15(pter----q12) plus de novo variant 15p11.
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.
authors.affiliation: Oliver Latham Laboratory, Department of Health, NSW.
authors.forename: A
authors.initials: A
authors.lastname: Smith
authors.forename: G
authors.initials: G
authors.lastname: Den Dulk
authors.forename: A
authors.initials: A
authors.lastname: Lipson
authors.forename: M
authors.initials: M
authors.lastname: Suter
mesh_terms: D002884:Chromosomes, Human, Pair 15 / Q000648:ultrastructure; D006801:Humans; D007621:Karyotyping; D008297:Male; D011218:Prader-Willi Syndrome / Q000235:genetics*; D014314:Trisomy