title: Isochromosome 15q of maternal origin in a Prader-Willi patient with pituitary adenoma.
abstract: We report on a Prader-Willi syndrome (PWS) patient carrier of a balanced 15q15q translocation and affected by a prolactin-secreting pituitary adenoma. Evidence provided by molecular studies indicates that the structural rearrangement is an isochromosome of maternal origin. According to the identification of isodisomy as the basis of the association of rare disorders and the recent report on chromosome 15 monosomy and nullisomy in pituitary adenoma, we suggest that in our case PWS and pituitary adenoma might be related.
authors.affiliation: Laboratorio di Citogenetica, Centro Auxologico Italiano, Milano, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Bettio
authors.forename: D
authors.initials: D
authors.lastname: Giardino
authors.forename: N
authors.initials: N
authors.lastname: Rizzi
authors.forename: P
authors.initials: P
authors.lastname: Riva
authors.forename: L
authors.initials: L
authors.lastname: Volpi
authors.forename: E
authors.initials: E
authors.lastname: Barantani
authors.forename: A
authors.initials: A
authors.lastname: Tagliaferri
authors.forename: L
authors.initials: L
authors.lastname: Larizza
mesh_terms: D000236:Adenoma / Q000235:genetics* / Q000378:metabolism; D000328:Adult; D002884:Chromosomes, Human, Pair 15; D005260:Female; D006801:Humans; D018404:Isochromosomes; D008297:Male; D010911:Pituitary Neoplasms / Q000235:genetics* / Q000378:metabolism; D011218:Prader-Willi Syndrome / Q000235:genetics* / Q000378:metabolism; D011388:Prolactin / Q000378:metabolism
chemical_list: D011388:Prolactin