title: A de novo 6q11-q15 duplication investigated by chromosome painting.
abstract: A de novo interstitial duplication of the 6q11-q15 chromosome region, confirmed by the application of a chromosome 6 painting probe, was observed in a patient with craniofacial dysmorphism, psychomotor retardation, cryptorchidism and hypospadias. Despite the publication of several cases showing partial trisomy 6q, to our knowledge the duplication of the proximal region q11-q15 has not previously been reported.
authors.affiliation: Laboratorio di Citogenetica, Centro Auxologico Italiano, Milan.
authors.forename: D
authors.initials: D
authors.lastname: Giardino
authors.forename: N
authors.initials: N
authors.lastname: Rizzi
authors.forename: V
authors.initials: V
authors.lastname: Briscioli
authors.forename: D
authors.initials: D
authors.lastname: Bettio
mesh_terms: D000293:Adolescent; D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics; D002871:Chromosome Banding; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D014314:Trisomy