title: Duplication 18q21.31-q22.2.
abstract: We report on three siblings with mild mental retardation and minor dysmorphic features carrying an interstitial duplication of the long arm of chromosome 18 inherited from a healthy mosaic carrier mother. The duplicated region spanned between 18q21.31 and 18q22.2 for about 12 Mb. The distal duplications of 18q are rare and only a small number of subjects, manifesting quite different clinical outcomes, have been described. However, in most of these cases, molecular characterization was not available. We have reviewed nine patients, including three familial cases, displaying overlapping duplicated regions, and compared them with the present individuals in an attempt to delineate karyotype-phenotype correlation.
authors.affiliation: Istituto di Ricovero e Cura a Carattere Scientifico, Casa Sollievo della Sofferenza, Mendel Institute, viale Regina Margherita, Rome, Italy.
authors.forename: Caterina
authors.initials: C
authors.lastname: Ceccarini
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Sinibaldi
authors.forename: Laura
authors.initials: L
authors.lastname: Bernardini
authors.forename: Roberto
authors.initials: R
authors.lastname: De Simone
authors.forename: Rita
authors.initials: R
authors.lastname: Mingarelli
authors.forename: Antonio
authors.initials: A
authors.lastname: Novelli
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000782:Aneuploidy; D002887:Chromosomes, Human, Pair 18; D020732:Cytogenetic Analysis; D005138:Eyebrows / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010641:Phenotype; D035781:Siblings; D013285:Strabismus / Q000235:genetics; D013576:Syndactyly / Q000235:genetics