45,X/46,XY mosaicism and Oculo-Auriculo-Vertebral Spectrum following an IVF pregnancy: A report and a discussion of their interrelationships
Baynam, G. and Goldblatt, J. (2009) 45,X/46,XY mosaicism and Oculo-Auriculo-Vertebral Spectrum following an IVF pregnancy: A report and a discussion of their interrelationships. Journal of Maxillofacial and Oral Surgery, 8 (3). pp. 279-282.
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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.
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