Turner's syndrome

This article is based on the study of 52 cases of Turner's syndrome, born b etween 1980 and 1996 and recorded in the Registry of Congenital Anomalies i n the Canton of Vaud. In most cases the cytogenetic analysis was based on maternal multiple-marke r screening, sonography findings or maternal age. The most common chromosome abnormality is complete monosomy X. The rare cas es of mosaic and the one case of isochromosome mainly involve livebirths. Morphological analysis of foetuses revealed hygroma colli (84%) and hydrops (63%), frequently associated with major cardiac malformations. The livebir ths present growth retardation, pterygium colli and facial dysmorphic featu res, but rarely complex malformations. In the light of our data, the probability of survival to birth is 0.8% and the prevalence in all clinical pregnancies is 1.1%.