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Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism

✍ Scribed by Karin Huijsdens-van Amsterdam; Daniela QCM Barge-Schaapveld; Inge B Mathijssen; Mariëlle Alders; Eva Pajkrt; Alida C Knegt


Book ID
115024450
Publisher
BioMed Central
Year
2012
Tongue
English
Weight
149 KB
Volume
5
Category
Article
ISSN
1755-8166

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📜 SIMILAR VOLUMES


Prenatal diagnosis of mosaic trisomy 13:
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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

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We describe six cases of trisomy 13 mosaicism detected at prenatal diagnosis. Most level I and level II trisomy 13 mosaicism detected at prenatal diagnosis is pseudomosaicism or confined placental mosaicism. Rarely, low-level mosaicism at chorionic villus sampling or amniocentesis reflects a true fe