title: Phenocopy of Wolf-Hirschhorn syndrome in a patient with duplication 12q13.3q14.1.
authors.affiliation: IRCCS Casa Sollievo della Sofferenza-Mendel Institute, Rome, Italy. dallapiccola@css-mendel.it
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: Laura
authors.initials: L
authors.lastname: Bernardini
authors.forename: Antonio
authors.initials: A
authors.lastname: Novelli
authors.forename: Rita
authors.initials: R
authors.lastname: Mingarelli
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002881:Chromosomes, Human, Pair 12; D055028:Comparative Genomic Hybridization; D020732:Cytogenetic Analysis; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D005260:Female; D020440:Gene Duplication; D015894:Genome, Human; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D054877:Wolf-Hirschhorn Syndrome / Q000235:genetics*
chemical_list: D004247:DNA