title: A patient with a de novo t (6;9) and an interstitial duplication of (9)(q21.2q22.1).
abstract: We report on a 4-year-old child with psychomotor retardation, general hypotonia and only mild dysmorphic features. Her chromosome constitution was 46,XX, t (6;9) (q27;q22.1), dup (9) (q21.2q22.1). This de novo interstitial duplication was confirmed using fluorescence in situ hybridisation (FISH) with band-specific probes. This is the second report of a patient with an interstitial duplication of this region of the long arm of chromosome 9. It is concluded that in a child with an abnormal phenotype and a de novo (apparently) balanced translocation, the possibility of a small duplication or deletion should be considered.
authors.affiliation: Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, The Netherlands.
authors.forename: M F
authors.initials: MF
authors.lastname: Mohrschladt
authors.forename: E K
authors.initials: EK
authors.lastname: Bijlsma
authors.forename: S
authors.initials: S
authors.lastname: Sluijter
authors.forename: R F
authors.initials: RF
authors.lastname: De Coo
authors.forename: J M
authors.initials: JM
authors.lastname: Hoovers
authors.forename: N J
authors.initials: NJ
authors.lastname: Leschot
mesh_terms: D002675:Child, Preschool; D002896:Chromosomes, Human, Pair 6; D002899:Chromosomes, Human, Pair 9; D005145:Face / Q000002:abnormalities*; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D011596:Psychomotor Disorders / Q000235:genetics*; D014178:Translocation, Genetic