title: Array-CGH characterization of a de novo t(X;Y)(p22;q11) in a female with short stature and mental retardation.
abstract: We report the clinical and molecular investigations in a girl with 46,X,-X,+der(X)t(X;Y)(p22;q11) de novo karyotype who presented an intricate phenotype characterized by mental retardation and facial dysmorphisms in combination with short stature. The structure of the derivative X chromosome was studied using BAC array-CGH which disclosed the Xp22 breakpoint between the STS and the VCX3A gene and the presence of the Yq11.1qter chromosome. It is common that females with Xp;Yq translocations present only short stature and are normal in every other aspect. Thus, this would be the first case in which a girl with Xp;Yq translocation presents an unusual phenotype with intermediate male clinical features with Xp;Yq translocations. The risk of developing gonadoblastoma in females with Y chromosome material is also discussed and, to this effect, different explanations related to this apparent variation are also presented.
authors.affiliation: Department of Pediatrics, G. D'Annunzio University, Chieti, Italy. chiarapalka@libero.it
authors.forename: Chiara
authors.initials: C
authors.lastname: Palka-Bayard-de-Volo
authors.forename: Stefania
authors.initials: S
authors.lastname: De Marco
authors.forename: Valentina
authors.initials: V
authors.lastname: Chiavaroli
authors.forename: Melissa
authors.initials: M
authors.lastname: Alfonsi
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Calabrese
authors.forename: Francesco
authors.initials: F
authors.lastname: Chiarelli
authors.forename: Angelika
authors.initials: A
authors.lastname: Mohn
mesh_terms: D000015:Abnormalities, Multiple; D002648:Child; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D012729:Sex Chromosome Aberrations; D014178:Translocation, Genetic / Q000235:genetics*