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Ovotesticular disorder of sexual development and a rare 46,XX/47,XXY karyotype

✍ Scribed by Ozsu, Elif; Mutlu, Gul Yesiltepe; Cizmecioglu, Filiz M.; Ekingen, Gülsen; Muezzinoglu, Bahar; Hatun, Sukru

Book ID
121846930
Publisher
Walter de Gruyter GmbH & Co. KG
Year
2013
Tongue
English
Weight
413 KB
Volume
26
Category
Article
ISSN
0334-018X

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MISINTERPRETATION OF TRISOMY 18 AS A PSE
MISINTERPRETATION OF TRISOMY 18 AS A PSEUDOMOSAICISM AT THIRD-TRIMESTER AMNIOCENTESIS OF A CHILD WITH A MOSAIC 46,XY/47,XY,+3/48,XXY,+18 KARYOTYPE
✍ C. M. A. VAN RAVENSWAAIJ-ARTS; J. H. A. M. TUERLINGS; A. F. J. VAN HEYST; J. G. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 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