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46,XY/47,XY,+17 mosaicism in a newborn with severe malformations

✍ Scribed by J. Bullerdiek; S. Bartnitzke


Publisher
Springer
Year
1982
Tongue
English
Weight
21 KB
Volume
60
Category
Article
ISSN
0340-6717

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πŸ“œ SIMILAR VOLUMES


MISINTERPRETATION OF TRISOMY 18 AS A PSE
✍ C. M. A. VAN RAVENSWAAIJ-ARTS; J. H. A. M. TUERLINGS; A. F. J. VAN HEYST; J. G. πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 285 KB

False-negative trisomy 18 has been reported after chorionic villus sampling, but not after amniocentesis. We describe a double aneuploidy in cultured amniocytes that was initially misinterpreted as a pseudomosaicism. A patient was referred at 31 weeks of gestation because of fetal anomalies at ultra