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Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1)

We present here a 16-year-old Turner syndrome patient with a complex karyotype that includes a maternally-inherited balanced translocation between chromosomes 4 and 16 and mosaicism of the isochromosome Xq10. Her karyotype was 45,X,t(4;16) (p15.2;p13.1)[9]/46,X,i(X) (q10),t(4;16)(p15.2;p13.1) [91]....

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Detalles Bibliográficos
Autores principales: Cetin, Z, Mendilcioglu, I, Yakut, S, Berker-Karauzum, S, Karaman, B, Luleci, G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Macedonian Science of Sciences and Arts 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3776687/
https://www.ncbi.nlm.nih.gov/pubmed/24052704
http://dx.doi.org/10.2478/v10034-011-0019-y