title: 18p monosomy with midline defects and a de novo satellite identified by FISH.
abstract: We report a girl with an 18p deletion and showing a total GH deficiency, a single central maxillary incisor, and a pituitary dysplasia. This suggests that del(18)(p) could be involved in pituitary dysplasia. We review the association between midline developmental defects and chromosome 18 anomalies. This case is due to a de novo satellite resulting from an unbalanced translocation t(18p;13p) identified by FISH. This is the first case of this cytogenetic mechanism in the 18p monosomy.
authors.affiliation: Laboratoire de Génétique, CHU Pellegrin, Bordeaux, France.
authors.forename: L
authors.initials: L
authors.lastname: Taine
authors.forename: C
authors.initials: C
authors.lastname: Goizet
authors.forename: Z Q
authors.initials: ZQ
authors.lastname: Wen
authors.forename: J F
authors.initials: JF
authors.lastname: Chateil
authors.forename: J
authors.initials: J
authors.lastname: Battin
authors.forename: R
authors.initials: R
authors.lastname: Saura
authors.forename: D
authors.initials: D
authors.lastname: Lacombe
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D004276:DNA, Satellite; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009006:Monosomy; D014178:Translocation, Genetic
chemical_list: D004276:DNA, Satellite