Prenatal diagnosis of mosaicism for part
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A. Jay; M. D. Kilby; E. Roberts; K. Brackley; C. Platt; J. McHugo; E. V. Davison
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Article
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1999
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John Wiley and Sons
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English
โ 217 KB
๐ 2 views
A case of prenatally diagnosed partial trisomy 8 is described. The 'syndrome' is associated with skeletal and cardiac anomalies, as well as hepatic calcification. Differing proportions of 47,XY,+der(8) and 46 XY were present in the different fetal tissues sampled. The highest proportion of 47,XY,+de