title: Inherited 18q23 duplication in a fetus with multiple congenital anomalies.
abstract: We report on a fetus with multiple congenital anomalies including atypical lissencephaly, corpus callosum agenesis, cerebellar hypoplasia, cleft palate, ventricular septal defect, and hypoplastic aortic arch. The initial routine chromosome study failed to detect any abnormality. Subtelomeres analysis by MLPA identified an 18q23 duplication inherited from its healthy father. We describe the anomalies identified and discuss diagnosis and the causability of this telomeric duplication.
authors.affiliation: Medical Genetic Department, Nantes University Hospital, Nantes, France. bertrand.isidor@chu-nantes.fr <bertrand.isidor@chu-nantes.fr>
authors.forename: Bertrand
authors.initials: B
authors.lastname: Isidor
authors.forename: Norbert
authors.initials: N
authors.lastname: Winer
authors.forename: Madeleine
authors.initials: M
authors.lastname: Joubert
authors.forename: Pierre
authors.initials: P
authors.lastname: Boisseau
authors.forename: Cedric
authors.initials: C
authors.lastname: Le Caignec
authors.forename: Michelle
authors.initials: M
authors.lastname: Bocéno
authors.forename: Catherine
authors.initials: C
authors.lastname: Fallet
authors.forename: Albert
authors.initials: A
authors.lastname: David
authors.forename: Jean Marie
authors.initials: JM
authors.lastname: Rival
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D002887:Chromosomes, Human, Pair 18; D005315:Fetal Diseases / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009693:Nucleic Acid Hybridization