<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

<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

<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...

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Bibliographic Details
Main Authors: Hersmus Remko, Stoop Hans, Turbitt Erin, Oosterhuis J, Drop Stenvert LS, Sinclair Andrew H, White Stefan J, Looijenga Leendert HJ
Format: Article
Language:English
Published: BMC 2012-11-01
Series:BMC Medical Genetics
Subjects:
Disorders of Sex Development (DSD)
Chromosomal-DSD
SRY
Next generation (deep) sequencing
Mutation
Online Access:http://www.biomedcentral.com/1471-2350/13/108

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http://www.biomedcentral.com/1471-2350/13/108

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