title: Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation.
abstract: Interstitial deletions of chromosome 4 have been described rarely and have had variable presentations. We describe the phenotypic characteristics associated with interstitial deletion of the p14-16 region of chromosome 4 in 7 patients with multiple minor anomalies in common, and with mental retardation. A review of published cases of interstitial deletions of the short arm of chromosome 4 is provided. These deletions present a distinct phenotype which is different from that of Wolf-Hirschhorn syndrome.
authors.affiliation: Department of Pediatrics, Doernbecher Children's Hospital, Portland 97201-3042, USA.
authors.forename: D M
authors.initials: DM
authors.lastname: White
authors.forename: D A
authors.initials: DA
authors.lastname: Pillers
authors.forename: J A
authors.initials: JA
authors.lastname: Reiss
authors.forename: M G
authors.initials: MG
authors.lastname: Brown
authors.forename: R E
authors.initials: RE
authors.lastname: Magenis
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D000368:Aged; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010641:Phenotype