title: De novo paracentric inversion (X)(q26q28) with features mimicking Prader-Willi syndrome.
abstract: Different genetic and non-genetic disorders, including several chromosomal abnormalities, may mimic Prader-Willi syndrome (PWS). We report on an 11-year-old girl with features reminiscent of PWS due to an unreported de novo paracentric inversion Xq26q28. Microdeletion 15q11-q13 and maternal uniparental disomy 15 were ruled out. The importance of chromosomal studies in addition to molecular analysis on patients with features suggestive of PWS is stressed.
authors.affiliation: Department of Pediatrics, Louisiana State University Health Sciences Center, New Orleans 70112-2822, USA.
authors.forename: Luisa
authors.initials: L
authors.lastname: Florez
authors.forename: Mary
authors.initials: M
authors.lastname: Anderson
authors.forename: Yves
authors.initials: Y
authors.lastname: Lacassie
mesh_terms: D002648:Child; D007446:Chromosome Inversion; D020223:Chromosome Painting; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D006801:Humans; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000235:genetics*