Prenatal diagnosis of Partial Trisomy 2q. Case Report
✍ Scribed by Ana Matos; Ana Nogueira; Begoña Criado; Salomé Pereira; Sérgio Castedo; Nuno Montenegro
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 94 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0197-3851
No coin nor oath required. For personal study only.
✦ Synopsis
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
📜 SIMILAR VOLUMES
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 prenatally diagnosed partial trisomy 8 is described. The 'syndrome' is associated with skeletal and cardiac anomalies, as well as hepatic calcification. Differing proportions of 47,XY,+der(8) and 46 XY were present in the different fetal tissues sampled. The highest proportion of 47,XY,+de