title: Complex chromosome re-arrangement 45,X,t(Y;9) in a girl with sex reversal and mental retardation.
abstract: A girl with mental retardation and multiple minor anomalies was found to have a complex chromosome 9p re-arrangement comprising a deleted, translocated Y chromosome, a deletion of the sex reversal gene region (DMRT1) at 9p, together with an inverted duplication of the more proximal part of 9p. The karyotype was 45,X,der(Y;9)(Ypter-->Yq12::9p21.1-->9p22.2::9p22.2-->9qter) de novo. The karyotypic male, phenotypic female had a dysgerminoma of the left dysplastic ovary. The patient had typical 'trisomy 9p' syndrome, and we propose that the critical region for this phenotype is located between 9p22.1 and 9p22.2.
authors.affiliation: Center for Human Genetics, University of Leuven, Belgium.
authors.forename: T J L
authors.initials: TJ
authors.lastname: de Ravel
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: J
authors.initials: J
authors.lastname: Van Driessche
authors.forename: J R
authors.initials: JR
authors.lastname: Vermeesch
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002648:Child; D002871:Chromosome Banding; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D012734:Disorders of Sex Development; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000473:pathology*; D007621:Karyotyping; D014178:Translocation, Genetic