title: Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.
abstract: Interstitial deletions of 7q11.23 cause Williams-Beuren syndrome, one of the best characterized microdeletion syndromes. The clinical phenotype associated with the reciprocal duplication however is not well defined, though speech delay is often mentioned. We present 14 new 7q11.23 patients with the reciprocal duplication of the Williams-Beuren syndrome critical region, nine familial and five de novo. These were identified by either array-based MLPA or by array-CGH/oligonucleotide analysis in a series of patients with idiopathic mental retardation with an estimated population frequency of 1:13,000-1:20,000. Variable speech delay is a constant finding in our patient group, confirming previous reports. Cognitive abilities range from normal to moderate mental retardation. The association with autism is present in five patients and in one father who also carries the duplication. There is an increased incidence of hypotonia and congenital anomalies: heart defects (PDA), diaphragmatic hernia, cryptorchidism and non-specific brain abnormalities on MRI. Specific dysmorphic features were noted in our patients, including a short philtrum, thin lips and straight eyebrows. Our patient collection demonstrates that the 7q11.23 microduplication not only causes language delay, but is also associated with congenital anomalies and a recognizable face.
authors.affiliation: Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, Universiteitsplein 1, 2610 Antwerp, Belgium. nathalie.van.der.aa@uza.be
authors.forename: Nathalie
authors.initials: N
authors.lastname: Van der Aa
authors.forename: Liesbeth
authors.initials: L
authors.lastname: Rooms
authors.forename: Geert
authors.initials: G
authors.lastname: Vandeweyer
authors.forename: Jenneke
authors.initials: J
authors.lastname: van den Ende
authors.forename: Edwin
authors.initials: E
authors.lastname: Reyniers
authors.forename: Marco
authors.initials: M
authors.lastname: Fichera
authors.forename: Corrado
authors.initials: C
authors.lastname: Romano
authors.forename: Barbara
authors.initials: B
authors.lastname: Delle Chiaie
authors.forename: Geert
authors.initials: G
authors.lastname: Mortier
authors.forename: Björn
authors.initials: B
authors.lastname: Menten
authors.forename: Anne
authors.initials: A
authors.lastname: Destrée
authors.forename: Isabelle
authors.initials: I
authors.lastname: Maystadt
authors.forename: Katrin
authors.initials: K
authors.lastname: Männik
authors.forename: Ants
authors.initials: A
authors.lastname: Kurg
authors.forename: Tiia
authors.initials: T
authors.lastname: Reimand
authors.forename: Dom
authors.initials: D
authors.lastname: McMullan
authors.forename: Christine
authors.initials: C
authors.lastname: Oley
authors.forename: Louise
authors.initials: L
authors.lastname: Brueton
authors.forename: Ernie M H F
authors.initials: EM
authors.lastname: Bongers
authors.forename: Bregje W M
authors.initials: BW
authors.lastname: van Bon
authors.forename: Rolph
authors.initials: R
authors.lastname: Pfund
authors.forename: Sebastien
authors.initials: S
authors.lastname: Jacquemont
authors.forename: Alessandra
authors.initials: A
authors.lastname: Ferrarini
authors.forename: Danielle
authors.initials: D
authors.lastname: Martinet
authors.forename: Connie
authors.initials: C
authors.lastname: Schrander-Stumpel
authors.forename: Alexander P A
authors.initials: AP
authors.lastname: Stegmann
authors.forename: Suzanna G M
authors.initials: SG
authors.lastname: Frints
authors.forename: Bert B A
authors.initials: BB
authors.lastname: de Vries
authors.forename: Berten
authors.initials: B
authors.lastname: Ceulemans
authors.forename: R Frank
authors.initials: RF
authors.lastname: Kooy
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7; D005145:Face / Q000002:abnormalities; D005192:Family Health; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010641:Phenotype; D013064:Speech Disorders / Q000235:genetics; D013577:Syndrome; D018980:Williams Syndrome / Q000235:genetics