title: 20-Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ: narrowing of the 9p duplication critical region to 6 Mb.
abstract: We studied the case of a girl with a partial 9p duplication, dup(9)(p22.1 --> p13.1). Molecular cytogenetics studies defined the chromosome 9 rearrangement as a direct duplication of 20 Mb from D9S1213 to D9S52. Microsatellite analysis demonstrated the presence of a double dosage of the paternal alleles and demonstrated that the duplication occurred between sister chromatids. The patient's phenotype was almost normal, with a few minor anomalies (dolichocephaly, crowded teeth, high arched palate) and normal IQ. The breakpoint's location in this patient and previously reported cases suggest that the critical region for the 9p duplication syndrome lies within a 6-Mb portion of chromosome 9p22 between markers D9S267 and D9S1213.
authors.affiliation: IRCCS Eugenio Medea, Bosisio Parini (Lecco), Italy. bonaglia@bp.lnf.it
authors.forename: Maria Clara
authors.initials: MC
authors.lastname: Bonaglia
authors.forename: Roberto
authors.initials: R
authors.lastname: Giorda
authors.forename: Romeo
authors.initials: R
authors.lastname: Carrozzo
authors.forename: Maria Elena
authors.initials: ME
authors.lastname: Roncoroni
authors.forename: Rita
authors.initials: R
authors.lastname: Grasso
authors.forename: Renato
authors.initials: R
authors.lastname: Borgatti
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
mesh_terms: D002648:Child; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D000013:Congenital Abnormalities / Q000235:genetics*; D003582:Cytogenetics; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007360:Intelligence / Q000235:genetics; D016133:Polymerase Chain Reaction