𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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


Prenatal diagnosis of a partial trisomy
✍ S. Tercanli; I. Hösli; A. Berlinger; R. Beyer; J. Achermann; W. Holzgreve 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 122 KB 👁 1 views
Prenatal diagnosis of mosaic trisomy 13:
✍ S. R. Eubanks; J. A. Kuller; D. Amjadi; C. M. Powell 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 106 KB 👁 2 views

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

Prenatal diagnosis of mosaicism for part
✍ A. Jay; M. D. Kilby; E. Roberts; K. Brackley; C. Platt; J. McHugo; E. V. Davison 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 217 KB 👁 2 views

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

Prenatal diagnosis of mosaic complete tr
✍ Colleen L. Schmitt; Julie S. Moldenhauer; Honor Wolfe; Kathleen Kaiser-Rogers; C 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 116 KB 👁 1 views