title: Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15--case report plus review of similar cases.
abstract: Prader-Willi (PWS) and Angelman (AS) are syndromes of developmental impairment that can result either from a 15q11-q13 deletion, paternal uniparental disomy (UPD), imprinting, or UBE3A mutations. A small cytogenetic subset of PWS and AS patients are carriers of a so-called small supernumerary marker chromosome (sSMC). Here, we report on an previously unreported PWS case with a karyotype 47,XY,+min(15)(pter->q11.1:) plus maternal heterodisomic UPD 15. A review of the literature revealed, that for both, PWS and AS patients, cases with (1) a sSMC plus microdeletion of the PWS/AS critical region, (2) inv dup(15) plus uniparental disomy (UPD) 15 and (3) cases without exclusion of a microdeletion an UBE3A mutation or UPD are described. The present case as well as the review of similar cases provides further evidence for the necessity to test UPD in prenatal cases with a de novo sSMC and in postnatal cases with otherwise unexplainable clinical phenotype.
authors.affiliation: Institute of Human Genetics and Anthropology, Jena, Germany. i8lith@mti.uni-jena.de
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
authors.forename: Elke
authors.initials: E
authors.lastname: Brude
authors.forename: Gabriele
authors.initials: G
authors.lastname: Gillessen-Kaesbach
authors.forename: Rainer
authors.initials: R
authors.lastname: König
authors.forename: Kristin
authors.initials: K
authors.lastname: Mrasek
authors.forename: Ferdinand
authors.initials: F
authors.lastname: von Eggeling
authors.forename: Heike
authors.initials: H
authors.lastname: Starke
mesh_terms: D017204:Angelman Syndrome / Q000235:genetics; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D009154:Mutation; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics; D024182:Uniparental Disomy
chemical_list: C471639:UBE3A protein, human; D044767:Ubiquitin-Protein Ligases