title: Absence of predictable phenotypic expression in proximal 15q duplications.
abstract: We describe ten individuals with an insertional duplication 15q12----q13. Phenotypic analysis of these individuals and 15 previously reported cases of proximal 15q duplications fails to show any consistent clinical manifestations. It appears that a duplication of this region is phenotypically silent.
authors.affiliation: Department of Medical Genetics, University of Wisconsin-Madison.
authors.forename: C J
authors.initials: CJ
authors.lastname: Ludowese
authors.forename: K J
authors.initials: KJ
authors.lastname: Thompson
authors.forename: G S
authors.initials: GS
authors.lastname: Sekhon
authors.forename: R M
authors.initials: RM
authors.lastname: Pauli
mesh_terms: D000328:Adult; D002884:Chromosomes, Human, Pair 15; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D005810:Multigene Family / Q000235:genetics*; D016254:Mutagenesis, Insertional / Q000235:genetics*; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000235:genetics