Prenatal diagnosis of mosaic complete trisomy 1q
β Scribed by Colleen L. Schmitt; Julie S. Moldenhauer; Honor Wolfe; Kathleen Kaiser-Rogers; Cynthia M. Powell
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 116 KB
- Volume
- 149A
- Category
- Article
- ISSN
- 1552-4825
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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 partial trisomy 2(q21q33) detected by cordocentesis at 27 weeks' gestation in a polymalformed fetus is described. This is the second case of a prenatally detected de novo duplication of 2q and the first involving the region referred to above. 1997 by
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