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

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

Author Sales Bispo, Adriana Valeria Google Scholar
Buregio-Frota, Pollyanna Google Scholar
Santos, Luana Oliveira dos Google Scholar
Leal, Gabriela Ferraz Google Scholar
Duarte, Andrea Rezende Google Scholar
Araujo, Jacqueline Google Scholar
Silva, Vanessa Cavalcante da Autor UNIFESP Google Scholar
Cartaxo Muniz, Maria Tereza Google Scholar
Liehr, Thomas Google Scholar
Santos, Neide Google Scholar
Institution Universidade Federal de Pernambuco (UFPE)
Inst Med Integral Prof Fernando Figueira IMIP
Hosp Oswaldo Cruz UPE
Universidade Federal de São Paulo (UNIFESP)
Inst Ciencias Biol
Univ Jena
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.
Keywords gonadoblastoma
X-monosomy
Language English
Sponsor Fundacao de Amparo a Ciencia e Tecnologia do Estado de Pernambuco
Grant number Fundacao de Amparo a Ciencia e Tecnologia do Estado de Pernambuco: FACEPE - APQ-0335-2.02/06
Date 2014-01-01
Published in Reproduction Fertility and Development. Collingwood: Csiro Publishing, v. 26, n. 8, p. 1176-1182, 2014.
ISSN 1031-3613 (Sherpa/Romeo, impact factor)
Publisher Csiro Publishing
Extent 1176-1182
Origin http://dx.doi.org/10.1071/RD13207
Access rights Closed access
Type Article
Web of Science ID WOS:000343227400011
URI http://repositorio.unifesp.br/handle/11600/37261

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