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

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.