title: Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome.
abstract: Copy losses/gains of the Williams-Beuren syndrome (WBS) region cause neurodevelopmental disorders with variable expressivity. The WBS prenatal diagnosis cannot be easily performed by ultrasound because only few phenotypic features can be assessed. Three WBS and the first reciprocal duplication prenatal cases are described with a review of the literature.
authors.affiliation: Research and development, cytogenetics and molecular biology, TOMA Advanced Biomedical Assays Busto Arsizio, Varese, Italy.
authors.forename: Livia
authors.initials: L
authors.lastname: Marcato
authors.affiliation: Unit of medical genetics, ULSS 9 Treviso Hospital Treviso, Italy.
authors.forename: Licia
authors.initials: L
authors.lastname: Turolla
authors.affiliation: Unit of medical genetics, St. Orsola Malpighi Hospital, University of Bologna Bologna, Italy ; Gynepro Medical Bologna, Italy.
authors.forename: Eva
authors.initials: E
authors.lastname: Pompilii
authors.affiliation: Department of Cytogenetics and Developmental Biology, Robert Debré Hospital, Paris and University Paris 7 Diderot Paris, France.
authors.forename: Celine
authors.initials: C
authors.lastname: Dupont
authors.affiliation: Deparment of Genetics, CHU Caen Côte de Nacre, UFR de Médecine Caen Caen, France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Gruchy
authors.affiliation: Research and development, cytogenetics and molecular biology, TOMA Advanced Biomedical Assays Busto Arsizio, Varese, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: De Toffol
authors.affiliation: Unit of obstetrics and gynecology, ULSS 9 Treviso Hospital Treviso, Italy.
authors.forename: Gabriella
authors.initials: G
authors.lastname: Bracalente
authors.affiliation: Department of Cytogenetics and Developmental Biology, Robert Debré Hospital, Paris and University Paris 7 Diderot Paris, France.
authors.forename: Severine
authors.initials: S
authors.lastname: Bacrot
authors.affiliation: Gynepro Medical Bologna, Italy.
authors.forename: Enzo
authors.initials: E
authors.lastname: Troilo
authors.affiliation: Department of Cytogenetics and Developmental Biology, Robert Debré Hospital, Paris and University Paris 7 Diderot Paris, France.
authors.forename: Anne C
authors.initials: AC
authors.lastname: Tabet
authors.affiliation: Unit of Anatomy pathology, histology, cytodiagnostics and cytogenetics, ULSS 9 Treviso Hospital Treviso, Italy.
authors.forename: Sabrina
authors.initials: S
authors.lastname: Rossi
authors.affiliation: Department of Cytogenetics and Developmental Biology, Robert Debré Hospital, Paris and University Paris 7 Diderot Paris, France.
authors.forename: Anne L
authors.initials: AL
authors.lastname: Delezoïde
authors.affiliation: Unit of medical genetics, ULSS 9 Treviso Hospital Treviso, Italy.
authors.forename: Demetrio
authors.initials: D
authors.lastname: Baldo
authors.affiliation: Deparment of Genetics, CHU Caen Côte de Nacre, UFR de Médecine Caen Caen, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Leporrier
authors.affiliation: Research and development, cytogenetics and molecular biology, TOMA Advanced Biomedical Assays Busto Arsizio, Varese, Italy.
authors.forename: Federico
authors.initials: F
authors.lastname: Maggi
authors.affiliation: Deparment of Genetics, CHU Caen Côte de Nacre, UFR de Médecine Caen Caen, France.
authors.forename: Arnaud
authors.initials: A
authors.lastname: Molin
authors.affiliation: Gynepro Medical Bologna, Italy ; Department of Obstetrics and Gynecology, St. Orsola Malpighi Hospital, University of Bologna Bologna, Italy.
authors.forename: Gianluigi
authors.initials: G
authors.lastname: Pilu
authors.affiliation: Research and development, cytogenetics and molecular biology, TOMA Advanced Biomedical Assays Busto Arsizio, Varese, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Simoni
authors.affiliation: Department of Cytogenetics, Fetopathology, Obstetrics and Gynaeacology, CHI Poissy St Germain Poissy, France.
authors.forename: Francois
authors.initials: F
authors.lastname: Vialard
authors.affiliation: Research and development, cytogenetics and molecular biology, TOMA Advanced Biomedical Assays Busto Arsizio, Varese, Italy.
authors.forename: Francesca R
authors.initials: FR
authors.lastname: Grati
keywords: Array CGH; Williams–Beuren critical region.; phenotype; prenatal; prenatal BACs on beads