The Journal of Bucharest College of Physicians and the Romanian Academy of Medical Sciences

Prenatal Diagnosis and Genetic Counselling in Turner Syndrome: Case Report and Literature Review


The first paper describing female patients with Turner syndrome (TS) was published in 1938 by Henry Turner[1]. It was later discovered that in 1930, Otto Ullrich had already reported a case report of a girl with suggestive symptoms of TS[2]. Therefore, the complete name is Ullrich-Turner syndrome.
Turner’s syndrome is a pathology found only in females, characterized by the partial or total absence of a second sex chromosome which leads to a wide range of physical findings that often includes congenital lymphedema, short stature, and gonadal dysgenesis[1]. The physical symptoms depend on the karyotype, as only 50% of Turner patients are 45,X the others displaying mosaics or abnormalities in the second sex chromosome. […]