title: Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization.
abstract: Inverted duplication 8p associated with deletion of the short arms of chromosome 8 (invdupdel[8p]) is a relatively uncommon complex chromosomal rearrangement, with an estimated incidence of 1 in 10,000-30,000 live borns. The chromosomal rearrangement consists of a deletion of the telomeric region (8p23-pter) and an inverted duplication of the 8p11.2-p22 region. Clinical manifestations of this disorder include severe to moderate intellectual disability and characteristic facial features. In most cases, there are also CNS associated malformations and congenital heart defects. In this work, we present the cytogenetic and molecular characterization of seven children with invdupdel(8p) rearrangements. Subsequently, we have carried out genotype-phenotype correlations in these seven patients. The majority of our patients carry a similar deletion but different size of duplications; the latter probably explaining the phenotypic variability among them. We recommend that complete clinical evaluation and detailed chromosomal microarray studies should be undertaken, enabling appropriate genetic counseling.
authors.affiliation: Cytogenetics Unit, Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
authors.forename: Fe Amalia
authors.initials: FA
authors.lastname: García-Santiago
authors.forename: Víctor
authors.initials: V
authors.lastname: Martínez-Glez
authors.forename: Fernando
authors.initials: F
authors.lastname: Santos
authors.forename: Sixto
authors.initials: S
authors.lastname: García-Miñaur
authors.forename: Elena
authors.initials: E
authors.lastname: Mansilla
authors.forename: Antonio González
authors.initials: AG
authors.lastname: Meneses
authors.forename: Jordi
authors.initials: J
authors.lastname: Rosell
authors.forename: Ángeles Pérez
authors.initials: ÁP
authors.lastname: Granero
authors.forename: Elena
authors.initials: E
authors.lastname: Vallespín
authors.forename: Luis
authors.initials: L
authors.lastname: Fernández
authors.forename: Blanca
authors.initials: B
authors.lastname: Sierra
authors.forename: María
authors.initials: M
authors.lastname: Oliver-Bonet
authors.forename: María
authors.initials: M
authors.lastname: Palomares
authors.forename: María Luisa
authors.initials: ML
authors.lastname: de Torres
authors.forename: María Ángeles
authors.initials: MÁ
authors.lastname: Mori
authors.forename: Julián
authors.initials: J
authors.lastname: Nevado
authors.forename: Karen E
authors.initials: KE
authors.lastname: Heath
authors.forename: Alicia
authors.initials: A
authors.lastname: Delicado
authors.forename: Pablo
authors.initials: P
authors.lastname: Lapunzina
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D058674:Chromosome Duplication / Q000235:genetics; D007446:Chromosome Inversion / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D003582:Cytogenetics / Q000379:methods*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D016615:Telomere / Q000235:genetics
keywords: FISH; chromosomal microarray; chromosome 8; deletion; duplication; genomic rearrangement; invdupdel(8p); inversion