title: 4q35 deletion and 10p15 duplication associated with immunodeficiency.
abstract: We report a familial cryptic reciprocal translocation between 4q35 and 10p15 leading to deletion of the terminal long arm of chromosome 4 and duplication of the terminal short arm of chromosome 10 in two family members who both have immunological disturbances and a similar facial appearance. The precise location and extent of the deletion and duplication was determined by fluorescence in situ hybridization (FISH). Furthermore, we investigated the deletion breakpoint of a previously reported patient with 4q34.3-qter deletion [Van Buggenhout et al. (2004); Am J Med Genet Part A 131A:186-189].
authors.affiliation: Wilhelm Johannsen Centre for Functional Genome Research, IMBG/G, University of Copenhagen, Copenhagen, Denmark.
authors.forename: S
authors.initials: S
authors.lastname: Cingoz
authors.forename: A M
authors.initials: AM
authors.lastname: Bisgaard
authors.forename: I
authors.initials: I
authors.lastname: Bache
authors.forename: T
authors.initials: T
authors.lastname: Bryndorf
authors.forename: M
authors.initials: M
authors.lastname: Kirchoff
authors.forename: W
authors.initials: W
authors.lastname: Petersen
authors.forename: H-H
authors.initials: HH
authors.lastname: Ropers
authors.forename: N
authors.initials: N
authors.lastname: Maas
authors.forename: G
authors.initials: G
authors.lastname: Van Buggenhout
authors.forename: N
authors.initials: N
authors.lastname: Tommerup
authors.forename: Z
authors.initials: Z
authors.lastname: Tümer
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000328:Adult; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic / Q000235:genetics*