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

Remko Hersmus, Hans Stoop, Erin Turbitt, Jan Wolter A Oosterhuis, Stenvert L S Drop, Andrew Sinclair, Stefan White, Leendert H Looijenga

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    Abstract

    To thoroughly investigate the presence of possible SRY gene mutations in mosaic DSD patients, we performed next generation (deep) sequencing on the genomic DNA of fourteen independent patients (twelve 45, X/46,XY, one 45,X/46,XX/46,XY, and one 46,XX/46,XY).
    Original languageEnglish
    Pages (from-to)1 - 7
    Number of pages7
    JournalBMC Medical Genetics
    Volume13
    Issue numberArt. No.:108
    DOIs
    Publication statusPublished - 2012

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