title: Patient with de novo 12p+ syndrome identified as dir dup (12) (p13) using subchromosomal painting libraries from somatic cell hybrids.
abstract: Several patients with partial 12p duplications are known. An additional patient, who presented with the clinical manifestations of trisomy 12p syndrome, is described. De novo duplication 12p13.1-->pter was diagnosed using subchromosomal painting libraries obtained from somatic cell hybrids.
authors.affiliation: Servizio di Genetica Medica, IRCCS Ospedale CSS, S. Giovanni Rotondo (Fg), Italy.
authors.forename: L
authors.initials: L
authors.lastname: Zelante
authors.forename: S
authors.initials: S
authors.lastname: Calvano
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: R
authors.initials: R
authors.lastname: Mingarelli
authors.forename: R
authors.initials: R
authors.lastname: Antonacci
authors.forename: L
authors.initials: L
authors.lastname: Chiovato
authors.forename: M
authors.initials: M
authors.lastname: Rocchi
mesh_terms: D000328:Adult; D002648:Child; D002871:Chromosome Banding; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D005260:Female; D006801:Humans; D006822:Hybrid Cells; D014314:Trisomy / Q000235:genetics