title: 5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.
abstract: Chromosome 5p13 duplication syndrome (OMIM #613174), a contiguous gene syndrome involving duplication of several genes on chromosome 5p13 including NIPBL (OMIM 608667), has been described in rare patients with developmental delay and learning disability, behavioral problems and peculiar facial dysmorphisms. 5p13 duplications described so far present with variable sizes, from 0.25 to 13.6 Mb, and contain a variable number of genes. Here we report another patient with 5p13 duplication syndrome including NIPBL gene only. Proband's phenotype overlapped that reported in patients with 5p13 microduplication syndrome and especially that of subjects with smaller duplications. Moreover, we better define genotype-phenotype relationship associated with this duplication and confirmed that NIPBL was likely the major dosage sensitive gene for the 5p13 microduplication phenotype.
authors.affiliation: Department of Molecular Medicine, University of Pavia, Pavia, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Novara
authors.forename: Enrico
authors.initials: E
authors.lastname: Alfei
authors.forename: Stefano
authors.initials: S
authors.lastname: D'Arrigo
authors.forename: Chiara
authors.initials: C
authors.lastname: Pantaleoni
authors.forename: Silvana
authors.initials: S
authors.lastname: Beri
authors.forename: Valentina
authors.initials: V
authors.lastname: Achille
authors.forename: Francesca L
authors.initials: FL
authors.lastname: Sciacca
authors.forename: Roberto
authors.initials: R
authors.lastname: Giorda
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
authors.forename: Roberto
authors.initials: R
authors.lastname: Ciccone
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D018797:Cell Cycle Proteins; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics*; D058674:Chromosome Duplication / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics; D056726:Genetic Association Studies; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D010641:Phenotype; D011506:Proteins / Q000235:genetics; D013577:Syndrome
chemical_list: D018797:Cell Cycle Proteins; C487465:NIPBL protein, human; D011506:Proteins