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Y chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X;Y translocation case

Adriana Valéria Sales Bispo A I , Pollyanna Burégio-Frota B , Luana Oliveira dos Santos A , Gabriela Ferraz Leal C , Andrea Rezende Duarte C , Jacqueline Araújo D , Vanessa Cavalcante da Silva F , Maria Tereza Cartaxo Muniz G E , Thomas Liehr H and Neide Santos A
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A Departamento de Genética, Universidade Federal de Pernambuco. Av. da Engenharia, s/n, Cidade Universitária, 50740-600, Recife, PE, Brasil.

B 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.

C Unidade de Genética Pediátrica, Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Rua dos Coelhos 300 Boa Vista. 50070-050, Recife, PE, Brasil.

D Unidade de Endocrinologia Pediátrica, Hospital das Clínicas HC/UFPE, Av. da Engenharia, s/n, Cidade Universitária, 50740-600, Recife, PE, Brasil.

E Centro de Oncohematologia Pediátrica de Pernambuco, Hospital Oswaldo Cruz/UPE, Rua Arnóbio Marques 310, Santo Amaro, 50100-130, Recife, PE, Brasil.

F 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.

G Instituto de Ciências Biológicas, Rua Arnóbio Marques 310, Santo Amaro, 50100-130, Recife, PE, Brasil.

H Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D-07743 Jena, Germany.

I Corresponding author. Email: bispo_adriana@hotmail.com

Reproduction, Fertility and Development 26(8) 1176-1182 https://doi.org/10.1071/RD13207
Submitted: 29 June 2013  Accepted: 13 September 2013   Published: 21 October 2013



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