Nuchal thickening in Jacobsen syndrome

Abstract

A routine detailed ultrasound examination performed at 20 weeks' gestation demonstrated the presence of nuchal thickening as an apparently isolated finding. The concentration of maternal α-fetoprotein was normal and the risk of Down's syndrome was 1 in 6800. Amniocentesis was performed and chromosome analysis showed the karyotype 46,XY, del(11)(q23) found in Jacobsen syndrome. Fetal autopsy performed following medical termination at 23 weeks confirmed the phenotype and internal abnormalities found in Jacobsen syndrome.