title: FISH analysis in detecting 9p duplication (p22p24).
abstract: Authors report on a case of partial 9p duplication, involving the 9p22-9p24 region. This represents the second case of such duplication in which the breakpoints were precisely defined using fluorescence in situ hybridisation (FISH) with chromosome 9 specific painting and YAC DNA probes, localised onto 9p22-9p24 region. FISH analysis pinpointed chromosome breakpoints in dup(9)(p22p24) and excluded an insertion or a translocation from other chromosomes. The present report supports the segment 9p22-9p24 as the critical region for the observed phenotype of the duplication 9p syndrome.
authors.affiliation: Dipartimento di Scienze Biomediche, Sezione di Genetica Medica, Università "G. D'Annunzio," Chieti, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Guanciali Franchi
authors.forename: G
authors.initials: G
authors.lastname: Calabrese
authors.forename: E
authors.initials: E
authors.lastname: Morizio
authors.forename: E
authors.initials: E
authors.lastname: Modestini
authors.forename: L
authors.initials: L
authors.lastname: Stuppia
authors.forename: R
authors.initials: R
authors.lastname: Mingarelli
authors.forename: G
authors.initials: G
authors.lastname: Palka
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D002899:Chromosomes, Human, Pair 9; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male