Amniocentesis Research Today is a free monthly online journal that collates and summarizes the latest research about Amniocentesis, including details on pregnancy, prenatal screening, diagnosis, risks, down syndrome.

Prenatal foetal diagnosis of partial trisomy 3q and monosomy 13p due to a maternal balanced rearrangement.

Pires A, Ramos L, Venâncio M, Rei AI, Castedo S, Saraiva J

Department of Paediatric Cardiology, Hospital Pediátrico de Coimbra, Portugal.

The authors describe a case of a male foetus whose ultrasound at 20 weeks' gestation revealed cystic hygroma, cleft lip and ventricular septal defect. Amniotic fluid cytogenetics using GTG banding showed a 46,XY,der(13)t(3;13)(q12;p11.1) rearrangement, and fluorescence in situ hybridization (FISH) delineated the relevant breakpoints. Familial studies identified a maternal balanced translocation involving chromosomes 3 and 13. The post-mortem examination confirmed the prenatal ultrasound findings.

Published 2 May 2005 in Prenat Diagn, 25(4): 292-5.
Full-text of this article is available online (may require subscription).

© 2005-2008 Amniocentesis Research Today. All Rights Reserved.