title: Partial trisomy 9q syndrome with a de novo tandem duplication of 9q22.2-q31.1.
abstract: A female with a de novo tandem duplication of 9q22.2-q31.1 is presented. Molecular delineation of the breakpoints was made by microarray CGH and fluorescent in situ hybridisation. Involvement of 9q22.2-q31.1 seems to be sufficient to produce the characteristic phenotype of partial trisomy 9q syndrome. A discussion on the recognizable clinical features of the condition is presented.
authors.affiliation: Department of Pediatrics, Division of Genetics, Hacettepe University, Ankara, Turkey.
authors.forename: G E
authors.initials: GE
authors.lastname: Utine
authors.forename: C
authors.initials: C
authors.lastname: Melotte
authors.forename: J R
authors.initials: JR
authors.lastname: Vermeesch
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000293:Adolescent; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D003582:Cytogenetics / Q000379:methods; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D020080:Tandem Repeat Sequences / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*