title: De novo deletion of chromosome 18q in a baby with harlequin ichthyosis.
abstract: Harlequin ichthyosis, (MIM 242500), is a rare, autosomal recessive skin disorder due to an inborn error of epidermal keratinization. The gene for this condition has not been localized. We present a case of HI in which there was a de novo deletion of chromosome 18q: the karyotype was 46, XY, del(18)(q21.3). We postulate that the gene for HI may lie at, or distal to 18q21.3 and that the deletion observed in this case may have unmasked this autosomal recessive disorder.
authors.affiliation: Department of Medical Genetics, Churchill Hospital, Old Road, Headington, Oxford, UK. helen.stewart@orh.nhs.uk
authors.forename: H
authors.initials: H
authors.lastname: Stewart
authors.forename: P T
authors.initials: PT
authors.lastname: Smith
authors.forename: L
authors.initials: L
authors.lastname: Gaunt
authors.forename: L
authors.initials: L
authors.lastname: Moore
authors.forename: P
authors.initials: P
authors.lastname: Tarpey
authors.forename: S
authors.initials: S
authors.lastname: Andrew
authors.forename: I
authors.initials: I
authors.lastname: Dady
authors.forename: R
authors.initials: R
authors.lastname: Rifkin
authors.forename: J
authors.initials: J
authors.lastname: Clayton-Smith
mesh_terms: D002871:Chromosome Banding; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D005865:Gestational Age; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000235:genetics*; D007231:Infant, Newborn; D007234:Infant, Premature; D007621:Karyotyping; D008297:Male; D008854:Microscopy, Electron; D012867:Skin / Q000473:pathology / Q000648:ultrastructure