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.
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.
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