SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype

BACKGROUND: The presence of the Y-chromosome or Y chromosome-derived material is seen in 4-60% of Turner syndrome patients (Chromosomal Disorders of Sex Development (DSD)). DSD patients with specific Y-chromosomal material in their karyotype, the GonadoBlastoma on the Y-chromosome (GBY) region, have...

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Main Authors: Hersmus, Remko, Stoop, Hans, Turbitt, Erin, Oosterhuis, J Wolter, Drop, Stenvert LS, Sinclair, Andrew H, White, Stefan J, Looijenga, Leendert HJ
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2012
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3538515/
https://ncbi.nlm.nih.gov/pubmed/23157850
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-13-108
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