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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

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Abstract

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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Authors and Affiliations

  1. School of Paediatrics and Child Health, University of WA, Perth, Australia

    Gareth Baynam & Jack Goldblatt

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  1. Gareth Baynam
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  2. Jack Goldblatt
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Correspondence to Gareth Baynam.

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Genetic Services of Western Australia Princess Margaret Hospital for Children and King Edward Memorial Hospital for Women

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Baynam, G., Goldblatt, J. 45,X/46,XY mosaicism and Oculo-Auriculo-Vertebral Spectrum following an IVF pregnancy: a report and a discussion of their interrelationships. J. Maxillofac. Oral Surg. 8, 279–282 (2009). https://doi.org/10.1007/s12663-009-0068-x

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  • DOI: https://doi.org/10.1007/s12663-009-0068-x

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