Intensive Care Medicine (ICM) Practice Exam

A young female patient with a short stature and cardiovascular symptoms consistent with aortic coarctation. What is most likely true of her karyotype?

1. Trisomy 21

2. Deletion of the q arm of chromosome 22

3. She has one X chromosome

4. She has three X chromosomes

The correct answer is: She has one X chromosome

The correct conclusion regarding the patient's karyotype being one X chromosome is indicative of Turner syndrome, a condition commonly associated with short stature and cardiovascular anomalies, including aortic coarctation. Turner syndrome typically affects females, characterized by the presence of a single X chromosome (45,X or variants) due to the absence or structural abnormalities of the second X chromosome. In this context, the presence of short stature alongside symptoms that may point towards cardiac defects aligns with the phenotype of Turner syndrome. Patients with Turner syndrome often experience not only growth deficiencies but also heart-related malformations, with aortic coarctation being one of the potential issues. This choice emphasizes the importance of recognizing congenital syndromes and their associated karyotypic features in clinical practice, particularly in cases presenting with related symptoms.