title: Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis.
abstract: Rhombencephalosynapsis is an uncommon, but increasingly recognized, cerebellar malformation defined as vermian agenesis with fusion of the hemispheres. The embryologic and genetic mechanisms involved are still unknown, and to date, no animal models are available. In the present study, we used Agilent oligonucleotide arrays in a large series of 57 affected patients to detect candidate genes. Four different unbalanced rearrangements were detected: a 16p11.2 deletion, a 14q12q21.2 deletion, an unbalanced translocation t(2p;10q), and a 16p13.11 microdeletion containing 2 candidate genes. These genes were further investigated by sequencing and in situ hybridization. This first microarray screening of a rhombencephalosynapsis series suggests that there may be heterogeneous genetic causes.
authors.affiliation: Service de Génétique Clinique, CHU Hôpital Sud, Rouen, France ; Equipe Génétique des Pathologies Liées au Développement, UMR 6290 CNRS, IFR 140 GFAS, Université de Rennes 1, Faculté de Médecine, and Laboratoires de, Rouen, France.
authors.forename: F
authors.initials: F
authors.lastname: Démurger
authors.forename: L
authors.initials: L
authors.lastname: Pasquier
authors.forename: C
authors.initials: C
authors.lastname: Dubourg
authors.forename: V
authors.initials: V
authors.lastname: Dupé
authors.forename: I
authors.initials: I
authors.lastname: Gicquel
authors.forename: C
authors.initials: C
authors.lastname: Evain
authors.forename: L
authors.initials: L
authors.lastname: Ratié
authors.forename: S
authors.initials: S
authors.lastname: Jaillard
authors.forename: M
authors.initials: M
authors.lastname: Beri
authors.forename: B
authors.initials: B
authors.lastname: Leheup
authors.forename: J
authors.initials: J
authors.lastname: Lespinasse
authors.forename: D
authors.initials: D
authors.lastname: Martin-Coignard
authors.forename: S
authors.initials: S
authors.lastname: Mercier
authors.forename: C
authors.initials: C
authors.lastname: Quelin
authors.forename: P
authors.initials: P
authors.lastname: Loget
authors.forename: P
authors.initials: P
authors.lastname: Marcorelles
authors.forename: A
authors.initials: A
authors.lastname: Laquerrière
authors.forename: C
authors.initials: C
authors.lastname: Bendavid
authors.forename: S
authors.initials: S
authors.lastname: Odent
authors.forename: V
authors.initials: V
authors.lastname: David
keywords: Array-CGH; Copy Number Variation; NDE1; Rhombencephalosynapsis