title: [Ring chromosome 9. Case report and review of the literature].
abstract: We report on a girl with ring chromosome 9, and review the 9 other cases of the literature. The main signs of this de novo chromosomal anomaly are: severe microcephaly, growth and psychomotor retardations, and heart malformations. Infectious complications occurs often. We found a decreased level of leucocyte interferon.
authors.affiliation: Service de génétique et maladies héréditaires du métabolisme, Hôpital Huriez, CHR, Lille.
authors.forename: S
authors.initials: S
authors.lastname: Manouvrier-Hanu
authors.forename: D
authors.initials: D
authors.lastname: Turck
authors.forename: F
authors.initials: F
authors.lastname: Gottrand
authors.forename: J B
authors.initials: JB
authors.lastname: Savary
authors.forename: G A
authors.initials: GA
authors.lastname: Loeuille
authors.forename: M M
authors.initials: MM
authors.lastname: Deminatti
authors.forename: J P
authors.initials: JP
authors.lastname: Farriaux
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D012303:Ring Chromosomes
vernacular_title: Le chromosome 9 en anneau. A propos d'un cas et revue de la littérature.