Prenatal diagnosis of mosaic trisomy 8: Clinical report and literature review
โ Scribed by Chih-Ping Chen; Ming Chen; Yi-Ju Pan; Yi-Ning Su; Schu-Rern Chern; Fuu-Jen Tsai; Yu-Ting Chen; Wayseen Wang
- Book ID
- 115547252
- Publisher
- Elsevier Science
- Year
- 2011
- Tongue
- English
- Weight
- 469 KB
- Volume
- 50
- Category
- Article
- ISSN
- 1028-4559
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While the clinical features associated with full trisomy 13 have been well characterized, the clinical outcome associated with mosaic trisomy 13 is much less clear. The medical literature reports a broad range of possible clinical outcomes from severe mental retardation and birth defects to normal i
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