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

• Main Authors: Hersmus Remko (Author), Stoop Hans (Author), Turbitt Erin (Author), Oosterhuis J (Author), Drop Stenvert LS (Author), Sinclair Andrew H (Author), White Stefan J (Author), Looijenga Leendert HJ (Author)
• Format: Book
• Published: BMC, 2012-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>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, th...