title: A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat.
abstract: We present here a 7 year old girl with the clinical signs of Wolf-Hirschhorn syndrome (WHS). Only on high resolution banding was a deletion of 4p16.3 suspected in both the proband and the father. Further studies using simultaneous R banding and FISH, with cosmid probe pc847.351 containing the mildly repetitive fragment 847-EC, confirmed the diagnosis and showed a paternal balanced translocation t(4;8)(p16.3;q24.3).
authors.affiliation: Department of Medical Genetics, University of Helsinki, Finland.
authors.forename: W
authors.initials: W
authors.lastname: el-Rifai
authors.forename: J
authors.initials: J
authors.lastname: Leisti
authors.forename: M
authors.initials: M
authors.lastname: Kähkönen
authors.forename: A
authors.initials: A
authors.lastname: Pietarinen
authors.forename: M R
authors.initials: MR
authors.lastname: Altherr
authors.forename: S
authors.initials: S
authors.lastname: Knuutila
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002648:Child; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002894:Chromosomes, Human, Pair 4; D002898:Chromosomes, Human, Pair 8; D005220:Fathers; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D013577:Syndrome; D014178:Translocation, Genetic