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

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Monday, December 10 2018 @ 06:37 EET

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


Viorica Tudor, Octavia Velicu, Mihai Mitran, Elvira Bratila, Emilia Severin

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.

Turnerís 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. [...]

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