Do recognize this genetic disorder?

November 07, 2018

Figure 1 Quiz of the Week

A full-term female infant is born to a healthy 34-year-old woman. Newborn examination reveals a broad chest with widely spaced nipples, a webbed neck, and lymphedema of the feet. Investigations including a karyotype analysis are performed, and the results later demonstrate a 45XO chromosomal pattern. 

Which of the following findings may also be present?

View Results
Loading ... Loading ...


Image credit: @JuliaKirkby.


Answer:  Elongated transverse aortic arch

This patient’s presentation and karyotype demonstrates Turner syndrome, a sex chromosomal disorder characterized by the presence of a single X chromosome, called X monosomy. Phenotypically, individuals with Turner syndrome have short stature, growth failure, infertility, and physical abnormalities including a webbed neck, a broad chest, and nail dysplasia. Up to 50% of patients with the condition have a cardiac malformation — commonly an elongated transverse aortic arch — that increases their risk of mortality.

Read more and join the discussion now at Figure 1!


Explore cases, quiz yourself, and solve medical mysteries along with thousands of other medical professionals around the world on Figure 1, the free app where doctors expand their clinical knowledge.