Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome

BACKGROUND: The 46,XY female is characterised by a male karyotype and female phenotype arising due to any interruption in the sexual development pathways in utero. The cause is usually genetic and various genes are implicated. CASE PRESENTATION: Herein we describe a 46,XY woman who was first diagnos...

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Detalles Bibliográficos
Autores principales: De Sousa, Sunita M. C., Kassahn, Karin S., McIntyre, Liam C., Chong, Chan-Eng, Scott, Hamish S., Torpy, David J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5100246/
https://www.ncbi.nlm.nih.gov/pubmed/27821113
http://dx.doi.org/10.1186/s12902-016-0141-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5100246/
https://www.ncbi.nlm.nih.gov/pubmed/27821113
http://dx.doi.org/10.1186/s12902-016-0141-7

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