title: Complex rearrangements of chromosome 15 in two patients with mild/atypical Prader Willi syndrome.
abstract: Multiple mechanisms are responsible for the development of Prader Willi syndrome (PWS), the most common genetic cause of obesity in childhood. Molecular findings are usually deletions and uniparental disomy (UPD) of the 15q11-13 region. Rarely, structural rearrangements of the pericentromeric region of chromosome 15 are also detected. Two cases with mild PWS phenotype and complex maternal UPD identified by microsatellite analysis are described: the first patient had uniparental iso and heterodisomy and the second displayed biallelic inheritance and uniparental isodisomy.
authors.affiliation: Department of Medical Genetics, Athens University School of Medicine, Athens, Greece.
authors.forename: K
authors.initials: K
authors.lastname: Salavoura
authors.forename: A
authors.initials: A
authors.lastname: Kolialexi
authors.forename: C
authors.initials: C
authors.lastname: Sofocleous
authors.forename: M
authors.initials: M
authors.lastname: Kalaitzidaki
authors.forename: A
authors.initials: A
authors.lastname: Pampanos
authors.forename: S
authors.initials: S
authors.lastname: Kitsiou
authors.forename: A
authors.initials: A
authors.lastname: Mavrou
mesh_terms: D000328:Adult; D002884:Chromosomes, Human, Pair 15; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D011218:Prader-Willi Syndrome / Q000235:genetics*; D024182:Uniparental Disomy / Q000235:genetics*