title: Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family.
abstract: Microscopically visible rearrangements of chromosome 4p includes the two well known abnormalities: partial trisomy 4p, and deletions of the Wolf-Hirschhorn critical regions 1 and 2 (WHSCR 1 and WHSCR2, respectively), which cause well-defined phenotypes including minor anomalies, and developmental delay/intellectual disability. In contrast small duplications of 4p are rare but with the advent of microarray techniques a few cases have been reported in recent years. Here we describe a 3 Mb duplication at 4p16.3 segregating with a characteristic phenotype, macrocephaly, speech delay and mild intellectual disability in a three generation family.
authors.affiliation: Genetic Counselling Clinic Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark. bitten.schoenewolf-greulich.01@regionh.dk
authors.forename: Bitten
authors.initials: B
authors.lastname: Schönewolf-Greulich
authors.forename: Kirstine
authors.initials: K
authors.lastname: Ravn
authors.forename: Bente
authors.initials: B
authors.lastname: Hamborg-Petersen
authors.forename: Karen
authors.initials: K
authors.lastname: Brøndum-Nielsen
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Tümer
mesh_terms: D002648:Child; D058674:Chromosome Duplication; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D007805:Language Development Disorders / Q000175:diagnosis / Q000235:genetics*; D058627:Megalencephaly / Q000175:diagnosis / Q000235:genetics*; D009630:Nondisjunction, Genetic; D010375:Pedigree; D010641:Phenotype
keywords: duplication 4p16.3; familial unbalanced chromosome aberration; intellectual disability; speech delay; syndrome