title: Y chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X;Y translocation case.
abstract: Turner syndrome (TS) is a common genetic disorder in females associated with the absence of complete or parts of a second sex chromosome. In 5-12% of patients, mosaicism for a cell line with a normal or structurally abnormal Y chromosome is identified. The presence of Y-chromosome material is of medical importance because it results in an increased risk of developing gonadal tumours and virilisation. Molecular study and fluorescence in situ hybridisation approaches were used to study 74 Brazilian TS patients in order to determine the frequency of hidden Y-chromosome mosaicism, and to infer the potential risk of developing malignancies. Additionally, we describe one TS girl with a very uncommon karyotype 46,X,der(X)t(X;Y)(p22.3?2;q11.23) comprising a partial monosomy of Xp22.3?2 together with a partial monosomy of Yq11.23. The presence of cryptic Y-chromosome-specific sequences was detected in 2.7% of the cases. All patients with Y-chromosome-positive sequences showed normal female genitalia with no signs of virilisation. Indeed, the clinical data from Y-chromosome-positive patients was very similar to those with Y-negative results. Therefore, we recommend that the search for hidden Y-chromosome mosaicism should be carried out in all TS cases and not be limited to virilised patients or carriers of a specific karyotype.
authors.affiliation: Departamento de Genética, Universidade Federal de Pernambuco. Av. da Engenharia, s/n, Cidade Universitária, 50740-600, Recife, PE, Brasil.
authors.forename: Adriana Valéria Sales
authors.initials: AV
authors.lastname: Bispo
authors.affiliation: Laboratório de Pesquisa Translacional Prof. C. Anthony Hart, Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Rua dos Coelhos 300, Boa Vista, 50070-050, Recife, PE, Brasil.
authors.forename: Pollyanna
authors.initials: P
authors.lastname: Burégio-Frota
authors.affiliation: Departamento de Genética, Universidade Federal de Pernambuco. Av. da Engenharia, s/n, Cidade Universitária, 50740-600, Recife, PE, Brasil.
authors.forename: Luana
authors.initials: L
authors.lastname: Oliveira dos Santos
authors.affiliation: Unidade de Genética Pediátrica, Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Rua dos Coelhos 300 Boa Vista. 50070-050, Recife, PE, Brasil.
authors.forename: Gabriela Ferraz
authors.initials: GF
authors.lastname: Leal
authors.affiliation: Unidade de Genética Pediátrica, Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Rua dos Coelhos 300 Boa Vista. 50070-050, Recife, PE, Brasil.
authors.forename: Andrea Rezende
authors.initials: AR
authors.lastname: Duarte
authors.affiliation: Unidade de Endocrinologia Pediátrica, Hospital das Clínicas HC/UFPE, Av. da Engenharia, s/n, Cidade Universitária, 50740-600, Recife, PE, Brasil.
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Araújo
authors.affiliation: Laboratório de Erros Inatos do Metabolismo-EIM, Universidade Federal de São Paulo-UNIFESP, Rua Sena Madureira 1500, Vila Mariana, 04021-001, São Paulo, SP, Brasil.
authors.forename: Vanessa
authors.initials: V
authors.lastname: Cavalcante da Silva
authors.affiliation: Instituto de Ciências Biológicas, Rua Arnóbio Marques 310, Santo Amaro, 50100-130, Recife, PE, Brasil.
authors.forename: Maria Tereza Cartaxo
authors.initials: MT
authors.lastname: Muniz
authors.affiliation: Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D-07743 Jena, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
authors.affiliation: Departamento de Genética, Universidade Federal de Pernambuco. Av. da Engenharia, s/n, Cidade Universitária, 50740-600, Recife, PE, Brasil.
authors.forename: Neide
authors.initials: N
authors.lastname: Santos
mesh_terms: D000293:Adolescent; D000328:Adult; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D005836:Genitalia, Female / Q000254:growth & development*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D059785:Karyotype; D007621:Karyotyping; D009006:Monosomy; D009030:Mosaicism; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011237:Predictive Value of Tests; D014178:Translocation, Genetic; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D055815:Young Adult