title: Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature.
abstract: Ring chromosome 6 (RC6) is a rare constitutional abnormality, with variable material loss, leading to a variable clinical phenotype: minimal physical anomalies and mild psychomotor retardation to severe physical and mental defects. Among the 22 published cases, only five have been prenatally detected. We describe here a RC6 prenatally diagnosed. Ultrasound follow-up showed growth retardation and cerebellar hypoplasia. Magnetic resonance imaging (MRI) confirmed this, but showed a partial corpus callosum agenesis, leading to amniocentesis and revealing the chromosomal abnormality. Imaging features were correlated with autopsy findings.
authors.affiliation: Laboratoire de Génétique Médicale-Barre Nord-Hôpital Jeanne de Flandre, CHRU Lille, 59037 Lille cedex, France. j-andrieux@chru-lille.fr
authors.forename: Joris
authors.initials: J
authors.lastname: Andrieux
authors.forename: Louise
authors.initials: L
authors.lastname: Devisme
authors.forename: Anne-Sylvie
authors.initials: AS
authors.lastname: Valat
authors.forename: Yann
authors.initials: Y
authors.lastname: Robert
authors.forename: Chrystele
authors.initials: C
authors.lastname: Frnka
authors.forename: Jean-Bernard
authors.initials: JB
authors.lastname: Savary
mesh_terms: D000328:Adult; D061085:Agenesis of Corpus Callosum; D002531:Cerebellum / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002871:Chromosome Banding; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D003337:Corpus Callosum / Q000000981:diagnostic imaging; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012303:Ring Chromosomes; D016216:Ultrasonography, Prenatal