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
✦ LIBER ✦
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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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