title: The first patient with tandem duplication of 6q14q16: Molecular and phenotypic characterization.
abstract: Duplications of the long arm of chromosome 6 have been previously reported in a limited number of patients; however, most reported duplications encompass regions of chromosome 6 distal to band q21. Duplications restricted to the proximal portion of 6q are rare. We report an 8-year-old male with a 16.4 megabase (Mb) tandem duplication of chromosome 6q14.1q16.1 (chr6:78950191-95395865; hg19) who exhibited dysmorphic facial features, seizures, global developmental delay, intellectual disability, autism spectrum disorder, sensorineural hearing loss, and immune deficiency. This patient refines and potentially expands the current, poorly-characterized phenotype associated with duplication of this proximal 6q region. We recommend a low threshold for a hearing evaluation beyond newborn screening and for pursuing an immune work-up in patients with similar 6q duplications. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Human Genetics Laboratory, University of Nebraska Medical Center, Munroe-Meyer Institute for Genetics and Rehabilitation, Omaha, Nebraska.
authors.forename: Jennifer N
authors.initials: JN
authors.lastname: Sanmann
authors.affiliation: Sanford Health, Medical Genetics, Fargo, North Dakota.
authors.forename: Kari A
authors.initials: KA
authors.lastname: Casas
authors.affiliation: Transgenomic, Inc., New Haven, Connecticut.
authors.forename: Jen
authors.initials: J
authors.lastname: Bevilacqua
authors.affiliation: Human Genetics Laboratory, University of Nebraska Medical Center, Munroe-Meyer Institute for Genetics and Rehabilitation, Omaha, Nebraska.
authors.forename: Danielle L
authors.initials: DL
authors.lastname: Bishay
authors.affiliation: Human Genetics Laboratory, University of Nebraska Medical Center, Munroe-Meyer Institute for Genetics and Rehabilitation, Omaha, Nebraska.
authors.forename: Tanner
authors.initials: T
authors.lastname: Clark
authors.affiliation: Human Genetics Laboratory, University of Nebraska Medical Center, Munroe-Meyer Institute for Genetics and Rehabilitation, Omaha, Nebraska.
authors.forename: A Zephyr
authors.initials: AZ
authors.lastname: Van Dyke
authors.affiliation: Sanford Health, Medical Genetics Laboratory, Sioux Falls, South Dakota.
authors.forename: Patricia Crotwell
authors.initials: PC
authors.lastname: Leiferman
authors.affiliation: Transgenomic, Inc., New Haven, Connecticut.
authors.forename: Honey V
authors.initials: HV
authors.lastname: Reddi
authors.affiliation: Division of Clinical Genetics, University of Nebraska Medical Center, Munroe-Meyer Institute for Genetics and Rehabilitation, Omaha, Nebraska.
authors.forename: Lois J
authors.initials: LJ
authors.lastname: Starr
mesh_terms: D000015:Abnormalities, Multiple; D002648:Child; D002871:Chromosome Banding; D058674:Chromosome Duplication; D002896:Chromosomes, Human, Pair 6; D055028:Comparative Genomic Hybridization; D019066:Facies; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D020080:Tandem Repeat Sequences
keywords: 6q duplication; 6q14q16; immune deficiency; proximal 6q duplication; sensorineural hearing loss