title: Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.
abstract: Kabuki syndrome (KS) is a rare MCA/MR syndrome with an estimated frequency of 1/32 000 in Japan. This syndrome is characterized by postnatal growth retardation, distinctive facial features, dermatoglyphic anomalies, skeletal dysplasia, and mental retardation. The molecular basis of KS remains unknown. Recently, Milunsky and Huang reported on six unrelated patients with a clinical diagnosis of KS and an 8p22-8p23.1 duplication using comparative genomic hybridization and BAC-FISH studies. Also, they suggested that a paracentric inversion may contribute to the occurrence of KS. In the present study, 24 patients with a clinical diagnosis of KS based on Niikawa-Kuroki criteria have been collected. They were tested for the presence of an 8p duplication using the same clones as described by Milunsky and Huang. Our results do not confirm the previously described association between KS and an 8p22-8p23.1 duplication.
authors.affiliation: Département de Génétique, Hôpital Necker Enfants Malades, Paris, France. damien.sanlaville@nck.ap-hop-paris.fr
authors.forename: Damien
authors.initials: D
authors.lastname: Sanlaville
authors.forename: David
authors.initials: D
authors.lastname: Genevieve
authors.forename: Céline
authors.initials: C
authors.lastname: Bernardin
authors.forename: Jeanne
authors.initials: J
authors.lastname: Amiel
authors.forename: Clarisse
authors.initials: C
authors.lastname: Baumann
authors.forename: Marie-Christine
authors.initials: MC
authors.lastname: de Blois
authors.forename: Valérie
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: Bénédicte
authors.initials: B
authors.lastname: Gerard
authors.forename: Marion
authors.initials: M
authors.lastname: Gerard
authors.forename: Martine
authors.initials: M
authors.lastname: Le Merrer
authors.forename: Philippe
authors.initials: P
authors.lastname: Parent
authors.forename: Fabienne
authors.initials: F
authors.lastname: Prieur
authors.forename: Marguerite
authors.initials: M
authors.lastname: Prieur
authors.forename: Odile
authors.initials: O
authors.lastname: Raoul
authors.forename: Annick
authors.initials: A
authors.lastname: Toutain
authors.forename: Alain
authors.initials: A
authors.lastname: Verloes
authors.forename: Géraldine
authors.initials: G
authors.lastname: Viot
authors.forename: Serge
authors.initials: S
authors.lastname: Romana
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
authors.forename: Stanislas
authors.initials: S
authors.lastname: Lyonnet
authors.forename: Michel
authors.initials: M
authors.lastname: Vekemans
authors.forename: Catherine
authors.initials: C
authors.lastname: Turleau
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D018376:Cardiovascular Abnormalities / Q000235:genetics; D002648:Child; D002869:Chromosome Aberrations; D022202:Chromosomes, Artificial, Bacterial; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D013577:Syndrome; D044465:White People / Q000235:genetics