title: Prader-Willi syndrome and Robertsonian translocations involving chromosome 15.
abstract: A case of Prader-Willi syndrome is presented in which high resolution chromosome analysis revealed not only a familial Robertsonian translocation [t(13q15q)], but also a del(15) (q11.2q13) of the chromosome 15 not involved in the translocation. While there have been numerous reports of Robertsonian translocations involving chromosome 15 in patients with Prader-Willi syndrome, in this case, the Robertsonian translocation was shown to be unrelated to the clinical findings.
authors.affiliation: Department of Pediatrics, New York Medical College, Valhalla.
authors.forename: A C
authors.initials: AC
authors.lastname: Casamassima
authors.forename: L R
authors.initials: LR
authors.lastname: Shapiro
authors.forename: P L
authors.initials: PL
authors.lastname: Wilmot
authors.forename: K B
authors.initials: KB
authors.lastname: Smith
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D002884:Chromosomes, Human, Pair 15; D006801:Humans; D007621:Karyotyping; D008297:Male; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*