title: 7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature.
abstract: A new 7p22.1 microduplication syndrome characterized by intellectual disability, speech delay and craniofacial dysmorphisms, such as macrocephaly, hypertelorism and ear anomalies, has been outlined by the description of two patients with interstitial microduplications confined to 7p22.1 and the recently defined minimal overlapping 430 kb critical region including five genes. Here we report on the first adult patient aged 35 years with moderate intellectual disability, psychomotor delay, facial dysmorphisms, cryptorchidism and cardiac anomalies, who carries two close microduplications at 7p22.1 of about 900 and 150 kb, respectively. The proximal smaller duplication includes three coding genes and maps outside the minimal described overlapping duplicated region, while the larger one represents the smallest 7p22.1 microduplication reported so far, as it encompasses the entire minimal region with only four additional genes. We compare the phenotype of our patient with that of the few reported cases and discuss on candidate genes in order to enhance the knowledge on genotype-phenotype correlation in 7p22.1 duplication syndrome.
authors: Lab. Citogenetica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milano, Italy. Electronic address: r.caselli@auxologico.it.
authors: Rossella
authors: R
authors: Caselli
authors: Lab. Citogenetica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milano, Italy.
authors: Lucia
authors: L
authors: Ballarati
authors: UO Neuropsichiatria Infantile-Centro Epilessia, AO San Paolo, Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milano, Italy.
authors: Aglaia
authors: A
authors: Vignoli
authors: UO Neuropsichiatria Infantile-Centro Epilessia, AO San Paolo, Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milano, Italy.
authors: Angela
authors: A
authors: Peron
authors: Lab. Citogenetica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milano, Italy.
authors: Maria Paola
authors: MP
authors: Recalcati
authors: Lab. Citogenetica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milano, Italy.
authors: Ilaria
authors: I
authors: Catusi
authors: Lab. Citogenetica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milano, Italy.
authors: Lidia
authors: L
authors: Larizza
authors: Lab. Citogenetica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milano, Italy.
authors: Daniela
authors: D
authors: Giardino
mesh_terms: D000328:Adult; D001483:Base Sequence; D058674:Chromosome Duplication; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D007805:Language Development Disorders / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D058627:Megalencephaly / Q000175:diagnosis / Q000235:genetics*; D008969:Molecular Sequence Data; D010641:Phenotype; D013577:Syndrome
keywords: 7p22.1; Array-CGH; Language delay; Microduplication syndrome