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45,X/46,XY mosaicism and Oculo-Auriculo-Vertebral Spectrum following an IVF pregnancy: A report and a discussion of their interrelationships

By G. Baynam and J. Goldblatt


The aetiology of Oculo-Auriculo-Vertebral Spectrum (OAVS) is unkown. We report a case following a prenatal diagnosis of 45,X/46,XY mosaicism in a pregnancy achieved by In-Vitro Fertilization (IVF) and describe evidence for the interrelationships of these phenomena and multiple births. This report extends the phenotypes associated with prenatally diagnosed 45,X/46,XY mosaicism and supports the association of OAVS and IVF

Publisher: 'Springer Science and Business Media LLC'
Year: 2009
DOI identifier: 10.1007/s12663-009-0068-x
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Provided by: Research Repository
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