title: Trisomy 6q syndrome: a case with a << de novo >> 6q23 tandem duplication.
abstract: In this study, we report the combined use of whole and partial chromosome 6 painting probe and YACS probes to define the unbalanced region of a de novo 6q+ marker chromosome. A male patient with peculiar features of << distal 6q trisomy syndrome >> showed a direct duplication of 6q23 region. Comparing the phenotype of this child with the phenotype of other << de novo >> partial 6q trisomy, we conclude that band 6q23 has an important role in defining 6q trisomy.
authors.affiliation: Department of Obstetrics and Gynecology, Bari University, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Causio
authors.forename: R
authors.initials: R
authors.lastname: Fischetto
authors.forename: F
authors.initials: F
authors.lastname: Carnevale
authors.forename: A
authors.initials: A
authors.lastname: Pansini
authors.forename: M
authors.initials: M
authors.lastname: Rocchi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D018244:Chromosomes, Artificial, Yeast; D002896:Chromosomes, Human, Pair 6; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D014314:Trisomy