title: 3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome.
abstract: In a male patient with developmental delay, autistic behaviour, obesity, lymphedema, hypertension, macrocephaly, and facial features of chromosome 5p duplication (trisomy 5p) a 3.7 Mb de novo tandem microduplication of 5p13.1-13.2 (rs4703415-rs261752, i.e., chr5:35.62-39.36 Mb) was identified. This observation contributes to the characterization and dissection of the 5p13 duplication syndrome. The possible role of increased NIPBL gene dosage is discussed.
authors.affiliation: Institute of Human Genetics, Technische Universität München, Munich, Germany. oexle@humangenetik.med.tum.de
authors.forename: Konrad
authors.initials: K
authors.lastname: Oexle
authors.forename: Maja
authors.initials: M
authors.lastname: Hempel
authors.forename: Anna
authors.initials: A
authors.lastname: Jauch
authors.forename: Thomas
authors.initials: T
authors.lastname: Meitinger
authors.forename: Núria
authors.initials: N
authors.lastname: Rivera-Brugués
authors.forename: Sabine
authors.initials: S
authors.lastname: Stengel-Rutkowski
authors.forename: Tim
authors.initials: T
authors.lastname: Strom
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D002658:Developmental Disabilities / Q000473:pathology; D005500:Follow-Up Studies; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008209:Lymphedema / Q000473:pathology; D008297:Male; D058627:Megalencephaly / Q000473:pathology; D009765:Obesity / Q000473:pathology; D013577:Syndrome; D055815:Young Adult