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Article

Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell– Silver syndrome

28 Dec 2010

Abstract excerpt

Petit F, Holder‐Espinasse M, Duban‐Bedu B, Bouquillon S, Boute‐Benejean O, Bazin A, Rouland V, Manouvrier‐Hanu S, Delobel B. Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell–Silver syndrome. Prenatal diagnosis of true mosaic trisomy 7 is rare in amniotic fluid and can be misinterpreted as pseudomosaic. The phenotype is highly variable and...

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PMID: 21204802
DOI: 10.1111/j.1399-0004.2010.01621.x

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