title: 45,X/46,XY mosaicism and Oculo-Auriculo-Vertebral Spectrum following an IVF pregnancy: a report and a discussion of their interrelationships.
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.
authors.affiliation: School of Paediatrics and Child Health, University of WA, Perth, Australia.
authors.forename: Gareth
authors.initials: G
authors.lastname: Baynam
authors.forename: Jack
authors.initials: J
authors.lastname: Goldblatt
keywords: Assisted reproduction techniques; Mosaicism; Multiple births; OAVS