title: Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event.
authors.forename: J R
authors.initials: JR
authors.lastname: Vermeesch
authors.forename: R
authors.initials: R
authors.lastname: Thoelen
authors.forename: I
authors.initials: I
authors.lastname: Salden
authors.forename: M
authors.initials: M
authors.lastname: Raes
authors.forename: G
authors.initials: G
authors.lastname: Matthijs
authors.forename: J-P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D005260:Female; D005764:Gastroesophageal Reflux / Q000175:diagnosis / Q000235:genetics; D020440:Gene Duplication; D006801:Humans; D007223:Infant; D008540:Meiosis / Q000235:genetics*; D009030:Mosaicism / Q000175:diagnosis / Q000235:genetics*; D018035:Receptors, Odorant / Q000235:genetics*
chemical_list: D018035:Receptors, Odorant