title: 4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype.
abstract: We report a de novo cryptic 11p duplication found by genomic microarray with a cytogenetically detected 4p deletion. Terminal 4p deletions cause Wolf-Hirschhorn syndrome, but the phenotype probably was modified by the paternally derived 11p duplication. This emphasizes the clinical utility of genomic microarray.
authors.affiliation: Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah, USA. David.Stevenson@hsc.edu
authors.forename: David A
authors.initials: DA
authors.lastname: Stevenson
authors.forename: John C
authors.initials: JC
authors.lastname: Carey
authors.forename: Brett C
authors.initials: BC
authors.lastname: Cowley
authors.forename: Pinar
authors.initials: P
authors.lastname: Bayrak-Toydemir
authors.forename: Rong
authors.initials: R
authors.lastname: Mao
authors.forename: Arthur R
authors.initials: AR
authors.lastname: Brothman
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D046228:Microarray Analysis / Q000379:methods; D010641:Phenotype; D013577:Syndrome